Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical...

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Detalles Bibliográficos
Autores principales: Cho, Ja Hyang, Kang, Eungu, Kim, Gu-Hwan, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073165/
https://www.ncbi.nlm.nih.gov/pubmed/27777911
http://dx.doi.org/10.6065/apem.2016.21.3.169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073165/
https://www.ncbi.nlm.nih.gov/pubmed/27777911
http://dx.doi.org/10.6065/apem.2016.21.3.169

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