263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype-Reference-Cited by-同舟云学术

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263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

Published:2013-06 Issue:6 Volume:56 Page:314-318
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kousoulidou Ludmila,Tanteles George,Moutafi Maria,Sismani Carolina,Patsalis Philippos C.,Anastasiadou Violetta

Funder

Research Promotion Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference15 articles.

1. A syndrome of mental retardation, wide mouth and intermittent overbreathing;Pitt;Aust. Paediatr. J.,1978

2. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum;Whalen;Hum. Mutat.,2012

3. Pitt–Hopkins syndrome;Peippo;Mol. Syndromol,2012

4. 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.,2007

5. 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

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1. Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports;World Journal of Clinical Cases;2022-12-06

2. Evaluation of Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome;Molecular Psychiatry;2022-10-12

3. Evaluation of Na_v1.8 as a therapeutic target for Pitt Hopkins Syndrome;2022-04-16

4. Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome;Developmental Neuroscience;2021

5. SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation;Clinical Dysmorphology;2019-10

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