TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Transient neonatal hyperparathyroidism (TNHP) is etiologically a heterogeneous condition. One of the etiologies is an insufficient maternal-fetal calcium transport through the placenta. We report six subjects with homozygous and/or compound-heterozygous mutations in the gene encoding the transient r...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992228/
https://ncbi.nlm.nih.gov/pubmed/29861107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.006
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados