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Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.
This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retarda...
Gardado en:
| Publicado en: | J Med Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
1992
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016030/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1640433/ |
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