Last Updated: 09/26/2026
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Found 9 publications
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: January 24, 2024
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Journal: NPJ genomic medicine
Published: October 13, 2021
Application of full-genome analysis to diagnose rare monogenic disorders.
Journal: NPJ genomic medicine
Published: May 29, 2020
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Journal: Human molecular genetics
Published: March 28, 2020
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
Journal: European journal of medical genetics
Published: October 13, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Journal: American journal of medical genetics. Part A
Published: July 16, 2019
X-linked duplication copy number variation in a familial overgrowth condition.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: May 02, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Journal: American journal of medical genetics. Part A
Published: October 15, 2018
Schimke immunoosseous dysplasia and management considerations for vascular risks.
Journal: American journal of medical genetics. Part A
Published: September 28, 2018
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Last Updated: 09/26/2026