Confirming Small Nuclear Ribonucleoprotein Polypeptide E as a Cause of Nonsyndromic Hypotrichosis

    Pratima Poudel, Zahra Haider, Gavin Ryan, Malobi Ogboli, Celia Moss
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    Studysummary In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
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