Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report ; volume:20 ; number:1 ; day:24 ; month:6 ; year:2019 ; pages:1-7 ; date:12.2019
BMC medical genetics ; 20, Heft 1 (24.6.2019), 1-7, 12.2019

Creator: Fernández-Marmiesse, A.
Pérez-Poyato, M. S.
Fontalba, A.
Marco de Lucas, E.
Martínez, M. T.
Cabero Pérez, M. J.
Couce, M. L.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12881-019-0844-5

URN: urn:nbn:de:101:1-2019092421533342507621

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 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

Fernández-Marmiesse, A.
Pérez-Poyato, M. S.
Fontalba, A.
Marco de Lucas, E.
Martínez, M. T.
Cabero Pérez, M. J.
Couce, M. L.
SpringerLink (Online service)

Other Objects (12)

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

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.

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

Septo-optic dysplasia plus: case report

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

MET mutation causes muscular dysplasia and arthrogryposis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Metformin can mitigate skeletal dysplasia caused by Pck2 deficiency

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Related objects

Reset password