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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
Onderwerpen:
Article
Online toegang: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: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items