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Article

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

European journal of human genetics : EJHG - 1 Oct 2008

Bicknell Louise S, Pitt James, Aftimos Salim, Ramadas Ram, Maw Marion A, Robertson Stephen P

Abstract excerpt

There are several rare syndromes combining wrinkled, redundant skin and neurological abnormalities. Although phenotypic overlap between conditions has suggested that some might be allelic to one another, the aetiology for many of them remains unknown. A consanguineous New Zealand Maori family has been characterised that segregates an autosomal recessive connective tissue disorder (joint dislocations, lax skin)...

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PMID: 18478038
DOI: 10.1038/ejhg.2008.91

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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