research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
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research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
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