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Novel LSS Variants in Alopecia and Intellectual Disability Syndrome: New Case Report and Clinical Spectrum of LSS‐related Rare Disease Traits

Hasnaa M. Elbendary,Dana Marafi,Ahmed K. Saad,Rasha Elhossini,Ruizhi Duan,Karima Rafat,Shalini N. Jhangiani,Richard A. Gibbs,Davut Pehlivan,Daniel G. Calame,Jennifer E. Posey,James R. Lupski,Maha S. Zaki

CLINICAL GENETICS（2023）

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关键词
alopecia,cerebellar abnormalities,hypogenitalism,intellectual disability,LSS-related phenotypes
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