Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders-Reference-Cited by-同舟云学术

Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

Published:2023-09 Issue:9 Volume:25 Page:100881
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Gregory Louise C.^ORCID,Cionna Cecilia,Cerbone Manuela,Dattani Mehul T.

Funder

Medical Research Foundation

National Institute for Health and Care Research

NIHR GOSH BRC

Great Ormond Street Hospital Children's Charity

Great Ormond Street Hospital for Children

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference39 articles.

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4. Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe;Karges;Horm Res,2004

5. Congenital isolated central hypothyroidism caused by a “hot spot” mutation in the thyrotropin-beta gene;McDermott;Thyroid,2002

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