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Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, s...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Martínez, F, Tomás, M, Millán, J M, Fernández, A, Palau, F, Prieto, F
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051274/
https://ncbi.nlm.nih.gov/pubmed/9598720
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