20 citations
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January 1997 in “Dermatology” This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.
3 citations
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June 2004 in “Työväentutkimus Vuosikirja” This article reviews the roles of several signaling pathways and molecules, including FGFs, Hh, Notch, TGF, and Wnt, in the development of teeth and hair follicles, but reports no new findings.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” 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.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” 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.
9 citations
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August 2024 in “Australian Prescriber” This review highlights that pharmacotherapy for polycystic ovary syndrome should address individual patient concerns, with metformin beneficial for reducing weight and metabolic risk, and lifestyle modifications also important.