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Article

X linked hydrocephalus and MASA syndrome.

Journal of medical genetics - 1 Jan 1996

Kenwrick S, Jouet M, Donnai D

Abstract excerpt

X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. Although originally described as distinct entities, their similarity has become apparent as the number of reported families has increased and a high degree of in...

Topics

Abnormalities, Multiple
Aphasia
Female
Genetics
Humans
Hydrocephalus
Intellectual Disability
Leukocyte L1 Antigen Complex
Mutation
Neural Cell Adhesion Molecules
Paraplegia
Syndrome
Thumb

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Identifiers

PMID: 8825051
DOI: 10.1136/jmg.33.1.59
PMCID: PMC1051814

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8825051-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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