Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family

Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. Mutations in the SH3PXD2B gene are a common cause in the development of FTHS. We recruited a family with two affected...

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Bibliographic Details
Main Authors: Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit
Format: Article
Language:English
Published: Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 2024-05-01
Series:Вавиловский журнал генетики и селекции
Subjects:
exome sequencing
mutation
sh3pxd2b gene
frank–ter haar syndrome
Online Access:https://vavilov.elpub.ru/jour/article/view/4146
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