Last Updated: 09/26/2026
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Found 13 publications
Growth Standards for Children With Smith-Magenis Syndrome (SMS).
Journal: American journal of medical genetics. Part A
Published: February 11, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Journal: Journal of medical genetics
Published: December 06, 2023
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Journal: American journal of medical genetics. Part A
Published: September 30, 2022
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 19, 2020
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Journal: Human mutation
Published: November 13, 2019
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 15, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Journal: American journal of medical genetics. Part A
Published: October 31, 2017
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: May 26, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Journal: American journal of medical genetics. Part A
Published: March 09, 2017
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Journal: American journal of medical genetics. Part A
Published: April 12, 2015
Last Updated: 09/26/2026