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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 intra- and interfamilial variation in clinical signs noted for both disorders. Consideration of this clinical overlap...

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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