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Article

Review and update of SPRED1 mutations causing Legius syndrome.

Human mutation - 1 Nov 2012

Brems Hilde, Pasmant Eric, Van Minkelen Rick, Wimmer Katharina, Upadhyaya Meena, Legius Eric, Messiaen Ludwine

Abstract excerpt

Legius syndrome presents as a mild neurofibromatosis type 1 (NF1) phenotype. Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling. Other typical NF1-associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors) are systematically absent. Legius syndrome is caused by germline...

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Identifiers

PMID: 22753041
DOI: 10.1002/humu.22152

Genes

SPRED1

Provenance

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Related research

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The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.Semantic proximity Read ↗

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.Semantic proximity Read ↗

Family with Legius syndrome (neurofibromatosis type 1-like syndrome).Semantic proximity Read ↗

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