Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family ; volume:19 ; number:1 ; day:8 ; month:5 ; year:2018 ; pages:1-5 ; date:12.2018
BMC medical genetics ; 19, Heft 1 (8.5.2018), 1-5, 12.2018

Creator: Elsayed, Liena E. O.

Contributor: Mohammed, Inaam N.
Hamed, Ahlam A. A.
Elseed, Maha A.
Salih, Mustafa A. M.
Yahia, Ashraf
Siddig, Rayan A.
Amin, Mutaz
Koko, Mahmoud
Elbashir, Mustafa I.
Ibrahim, Muntaser E.
Brice, Alexis
Ahmed, Ammar E.
Stevanin, Giovanni
SpringerLink (Online service)

DOI: 10.1186/s12881-018-0592-y

URN: urn:nbn:de:101:1-2018071323563372057236

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:32 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Elsayed, Liena E. O.
Mohammed, Inaam N.
Hamed, Ahlam A. A.
Elseed, Maha A.
Salih, Mustafa A. M.
Yahia, Ashraf
Siddig, Rayan A.
Amin, Mutaz
Koko, Mahmoud
Elbashir, Mustafa I.
Ibrahim, Muntaser E.
Brice, Alexis
Ahmed, Ammar E.
Stevanin, Giovanni
SpringerLink (Online service)

Other Objects (12)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients

Related objects

Reset password