Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error-Reference-Cited by-同舟云学术

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error

Published:2023-07-21 Issue:5 Volume:8 Page:993-999
ISSN:2475-7241
Container-title:The Journal of Applied Laboratory Medicine
language:en
Short-container-title:

Author:

Jain Ruchi¹,Rabea Fatima²,Alfalasi Roudha¹,Elabiary Mohamed Wasfy²³,Abou Tayoun Ahmad¹⁴^ORCID

Affiliation:

1. Al Jalila Genomics Center of Excellence, Al Jalila Children’s Specialty Hospital , Dubai , United Arab Emirates

2. College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences , Dubai , United Arab Emirates

3. Department of Endocrinology, Al Jalila Children’s Specialty Hospital , Dubai , United Arab Emirates

4. Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences , Dubai , United Arab Emirates

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/jalm/article-pdf/8/5/993/51337026/jfad039.pdf

Reference14 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

2. Genetic causes of congenital hypothyroidism due to dyshormonogenesis;Grasberger;Curr Opin Pediatr,2011

3. The genomic landscape of rare disorders in the Middle East;Naofal;Genome Med,2023

4. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism;Long;Endocr J,2018

5. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism;Santos-Silva;J Pediatr Endocrinol Metab,2019

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