A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8166

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features ; volume:9 ; number:1 ; day:31 ; month:5 ; year:2016 ; pages:1-5 ; date:12.2016
Molecular cytogenetics ; 9, Heft 1 (31.5.2016), 1-5, 12.2016

Creator: Xie, Bobo

Contributor: Fan, Xin
Lei, Yaqin
Chen, Rongyu
Wang, Jin
Fu, Chunyun
Yi, Shang
Luo, Jingsi
Zhang, ShuJie
Yang, Qi
Chen, Shaoke
Shen, Yiping
SpringerLink (Online service)

DOI: 10.1186/s13039-016-0251-y

URN: urn:nbn:de:1111-2016060219098

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:46 AM CEST

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Associated

Xie, Bobo
Fan, Xin
Lei, Yaqin
Chen, Rongyu
Wang, Jin
Fu, Chunyun
Yi, Shang
Luo, Jingsi
Zhang, ShuJie
Yang, Qi
Chen, Shaoke
Shen, Yiping
SpringerLink (Online service)

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NF1 microdeletion syndrome: case report of two new patients

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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

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A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

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Other Objects (12)

NF1 microdeletion syndrome: case report of two new patients

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Stature

Body dysmorphic disorder

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

NF1 microdeletion syndrome: case report of two new patients

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Stature

Body dysmorphic disorder

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

NF1 microdeletion syndrome: case report of two new patients

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Stature

Body dysmorphic disorder

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

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