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Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy

Here, we report the diagnostic challenge of a female patient of Russian descent with autosomal recessive hypotrichosis with juvenile macular dystrophy (HJMD). She presented to dermatology age one and a half years with sparse hair growth on her scalp, her parents were reassured this would grow, but i...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:BMJ Case Rep
Κύριοι συγγραφείς: Narayan, Akshay, Moosajee, Mariya
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Publishing Group 2019
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6827737/
https://ncbi.nlm.nih.gov/pubmed/31645385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232342
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