January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” This case report describes a patient with ulerythema ophryogenes who had developmental and physical anomalies and showed no improvement with topical or oral isotretinoin treatments.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
4 citations
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September 2013 in “Journal of Plastic Surgery and Hand Surgery” This study details the successfully treated case of a 16-year-old girl with congenital alopecia due to encephalocraniocutaneous lipomatosis, resulting in high patient satisfaction after hair restoration.