View in EDS

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

Saved in:
Bibliographic Details
Title: An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
Authors: Au CW; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng SS; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng TH; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Chan PKJ; Department of Radiology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ho LI; Department of Dentistry & Maxillofacial Surgery, Hong Kong Childrens's Hospital, Hong Kong SAR, China., Cheng JY; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Yeung WW; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ou M; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Tse VC; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China., Wong HC; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China., Luk HM; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 749-754. Date of Electronic Publication: 2025 Nov 01.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.64292