Article
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Human genetics - 1 Apr 2017
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
Abstract excerpt
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 movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or...
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