A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed de...

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Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Main Authors: Kim, You-Min, Jang, Yoon-Young, Jeong, Ji-Eun, Park, Hye-Jin, Jang, Ja-Hyun, Kim, Jin-Kyung
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Pediatric Endocrinology 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6603605/
https://ncbi.nlm.nih.gov/pubmed/31261480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2019.24.2.137
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