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Article

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Clinical genetics - 1 Sept 2023

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

Abstract excerpt

Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4). We performed trio research exome sequencing on a family with a four-year-old male with global developmental delay, epilepsy and striking alopecia, and identified novel compound...

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PMID: 37157980
DOI: 10.1111/cge.14348
PMCID: PMC10524748

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