Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array-Reference-Cited by-同舟云学术

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Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Published:2008-03 Issue:2 Volume:51 Page:172-177
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Andrieux Joris,Lepretre Frédéric,Cuisset Jean-Marie,Goldenberg Alice,Delobel Bruno,Manouvrier-Hanu Sylvie,Holder-Espinasse Muriel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference10 articles.

1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt–Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am. J. Hum. Genet.,2006

2. Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum. Mol. Genet.,2007

3. Deletion of chromosome region 18q21.1→18q21.3 in a patient without clinical features of the 18q-phenotype;Engelen;Am. J. Med. Genet. A.,2003

4. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3);Gustavsson;Am. J. Med. Genet.,1999

5. Molecular analysis of the 18q-syndrome and correlation with phenotype;Kline;Am. J. Hum. Genet.,1993

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1. Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH;Molecular Syndromology;2023

2. Short and thick corpus callosum – the thin border between a minor anatomical variant to very poor outcome;The Journal of Maternal-Fetal & Neonatal Medicine;2020-09-22

3. Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report;Russian Journal of Child Neurology;2019-07-28

4. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement;Clinical Genetics;2019-02-18

5. Pitt-Hopkins Syndrome: A Unique Case Study;Journal of the International Neuropsychological Society;2018-10

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