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Article

Auditory phenotype of Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A - 1 Apr 2021

Zalewski Christopher K, Sydlowski Sarah A, King Kelly A, Bianconi Simona, Dang Do An, Porter Forbes D, Brewer Carmen C

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. Auditory characteristics of persons with SLOS have been described in limited case reports but have not been systematically evaluated. The objective of this study is to describe the auditory phenotype in SLOS. Age- and ability-appropriate hearing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33529473
DOI: 10.1002/ajmg.a.62087
PMCID: PMC7994936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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