Last Updated: 09/26/2026
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Found 13 publications
Domain specific phenotypic expansion associated with variants in MACF1.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.
Journal: American journal of medical genetics. Part A
Published: September 22, 2024
Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss.
Journal: Frontiers in pediatrics
Published: September 22, 2023
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
Journal: American journal of medical genetics. Part A
Published: February 18, 2022
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 10, 2021
A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Journal: Clinical dysmorphology
Published: January 14, 2020
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree.
Journal: Clinical dysmorphology
Published: October 01, 2019
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
Journal: European journal of medical genetics
Published: May 07, 2019
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.
Journal: Clinical dysmorphology
Published: August 05, 2017
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Journal: American journal of medical genetics. Part A
Published: October 29, 2016
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Journal: Clinical case reports
Published: July 25, 2016
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
Journal: American journal of medical genetics. Part A
Published: March 31, 2016
Last Updated: 09/26/2026