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Clinical and cytogenetic study of a case with familial chromosomal translocation presenting with facial dysmorphism and axial neuropathy

Autor: H T, El-Bassyouni, M, Shehab, H M, Kora, S A, Temtamy

Publikováno v: Genetic counseling (Geneva, Switzerland). 23(1)

We report on a 9-year-old female patient presenting with muscle weakness, facial dysmorphism and mild mental retardation. She had low birth weight, developmental delay, hypotonia and hyporeflexia and difficulties in climbing the stairs. EMG revealed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca7636c34e2d9ef4fd487665268f6245
https://pubmed.ncbi.nlm.nih.gov/22611641

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