Last Updated: 09/26/2026
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Found 6 publications
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Journal: Journal of medical genetics
Published: December 06, 2023
Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome.
Journal: Journal of drugs in dermatology : JDD
Published: April 07, 2022
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
Journal: Frontiers in pediatrics
Published: February 03, 2021
Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary.
Journal: The Journal of pediatrics
Published: September 11, 2020
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Journal: Molecular genetics & genomic medicine
Published: June 25, 2020
Showing 1-6 of 6
Last Updated: 09/26/2026