2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.