Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes ( SPAG17 and WDR35 ) in a patient with multiple brain and skeletal anomalies-Reference-Cited by-同舟云学术

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes ( SPAG17 and WDR35 ) in a patient with multiple brain and skeletal anomalies

Published:2018-03 Issue:3 Volume:61 Page:161-167
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Córdova-Fletes Carlos,Becerra-Solano Luis E.,Rangel-Sosa Martha M.,Rivas-Estilla Ana María,Alberto Galán-Huerta Kame,Ortiz-López Rocío,Rojas-Martínez Augusto,Juárez-Vázquez Clara I.,García-Ortiz José E.

Funder

PROMEP

PAICYT

CONACYT

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

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3. Neurexophilin 3 is highly localized in cortical and cerebellar regions and is functionally important for sensorimotor gating and motor coordination;Beglopoulos;Mol. Cell. Biol.,2005

4. Respiratory manifestations in 38 patients with Alström syndrome;Boerwinkle;Pediatr. Pulmonol.,2017

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