January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
5 citations
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June 2020 in “Journal of Endocrinological Investigation” The study observed that women with congenital adrenal hyperplasia experience more impaired sexual functions and are more often homosexually or bisexually oriented than those with polycystic ovary syndrome.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
