A typical variant in <i>TCF4</i> exon 18 is not associated with <scp>P</scp> itt– <scp>H</scp> opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder-Reference-Cited by-同舟云学术

A typical variant in TCF4 exon 18 is not associated with P itt– H opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

Published:2022-12-27 Issue:4 Volume:191 Page:1070-1076
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Aldeeri Abdulrahman A.¹²^ORCID,Abu‐El‐Haija Aya¹

Affiliation:

1. Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

2. Department of Internal Medicine King Saud University Medical City Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63098

Reference20 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

2. Investigation of the role ofTCF4rare sequence variants in schizophrenia

3. Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

4. Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

5. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

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