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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

BMC medical genetics - 11 Mar 2016

Tucci Arianna, Ronzoni Luisa, Arduino Carlo, Salmin Paola, Esposito Susanna, Milani Donatella

Abstract excerpt

BACKGROUND: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, typical dysmorphic facial features, and variable degrees of developmental delay and intellectual disability (ID)....

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Alleles
Child, Preschool
DHCR7 gene
Mutation
Oxidoreductases Acting on CH-CH Group Donors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Smith-Lemli-Opitz Syndrome

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Identifiers

PMID: 26969503
DOI: 10.1186/s12881-016-0287-1
PMCID: PMC4788854

Genes

DHCR7

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.PMID 26969503Read ↗

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