Last Updated: 09/26/2026
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Found 6 publications
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Journal: American journal of medical genetics. Part A
Published: July 11, 2019
Cohesin complex-associated holoprosencephaly.
Journal: Brain : a journal of neurology
Published: March 05, 2019
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Journal: JCI insight
Published: September 16, 2016
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Journal: American journal of human genetics
Published: June 17, 2014
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Journal: American journal of human genetics
Published: October 09, 2012
Showing 1-6 of 6
Last Updated: 09/26/2026