Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases-Reference-Cited by-同舟云学术

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases

Published:2021-03-05 Issue:4 Volume:57 Page:484-490
ISSN:1034-4810
Container-title:Journal of Paediatrics and Child Health
language:en
Short-container-title:J Paediatr Child Health

Author:

Graves Lara E.¹^ORCID,Khouri Joseph M.²³,Kristidis Peter⁴,Verge Charles F.¹³

Affiliation:

1. Department of Endocrinology Sydney Children's Hospital Sydney New South Wales Australia

2. Department of Paediatrics Liverpool Hospital Sydney New South Wales Australia

3. School of Women's and Children's Health University of New South Wales Sydney New South Wales Australia

4. Department of Paediatrics Wollongong Hospital, Illawarra Shoalhaven Local Health District Wollongong New South Wales Australia

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.15407

Reference29 articles.

1. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

2. The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus

3. Late diagnosis of POMC deficiency and in vitro evidence of residual translation from allele with c.‐11C>A mutation;Anisimova AS;J. Clin. Endocrinol. Metab.,2017

4. Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency

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