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Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

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Bibliographic Details
Title: Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.
Authors: Htoo CEMC; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital., Ng JWZ; School of Biological Sciences, Nanyang Technological University., Sim DY; School of Biological Sciences, Nanyang Technological University., Goh J; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Lim JY; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Goh JCY; Division of Nursing, Nursing Clinical Services, KK Women's and Children's Hospital., Kam S; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Teo JX; SingHealth Duke-NUS Institute of Precision Medicine., Lim WK; SingHealth Duke-NUS Genomic Medicine Centre.; SingHealth Duke-NUS Institute of Precision Medicine.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School.; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Singapore., Roca X; School of Biological Sciences, Nanyang Technological University., Jamuar SS; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Institute of Precision Medicine.
Source: Clinical dysmorphology [Clin Dysmorphol] 2025 Apr 01; Vol. 34 (2), pp. 49-54. Date of Electronic Publication: 2025 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
Description
ISSN:1473-5717
DOI:10.1097/MCD.0000000000000518