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Paper Details

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Am J Med Genet A
8
2018
4q34, 4q34 deletion syndrome, Rapp-Hodgkin, Hay-Wells, and, SCID, T, T-cell lymphopenia, TP63, TP63 variants, TP63-related disorders, Tumor Protein P63, Tumor Protein P63 (TP63)-related disorders, abnormal immune functioning, bilateral volar nail, bilateral volar nails, child, choanal atresia, cleft lip and palate, cleft lip/palate, clefting, ectodermal dysplasia, ectrodactyly, hand anomalies, hand malformations, hydrocele, hydronephrosis, laryngeal web, limb-mammary syndromes, orofacial clefting, severe combined immunodeficiency, unilateral cleft lip and palate, volar nail
Author NameAffiliation
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia
Renata PellegrinoCenter for Applied Genomics, Children's Hospital of Philadelphia
Zornitza StarkVictorian Clinical Genetics Service
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
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