Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movement...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395200/
https://ncbi.nlm.nih.gov/pubmed/28220259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1765-z
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker