Výsledky vyhledávání - "M G, D'Avanzo"

Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria

Autor: Gioacchino Scarano, M. G. D'Avanzo, Marcella Zollino, Agatino Battaglia, M Cappa, M. M. Della Bruna, G. Neri, R. Marini

Publikováno v: Scopus-Elsevier

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic cr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc82c3a776d2b1d2ecfdd455e225ef13
https://doi.org/10.1002/ajmg.1320520310

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Double independent balanced translocation in a girl with mild phenotypical stigmata

Autor: M G, D'Avanzo, M, Colantuoni, P, Sirone, L, de Castris, L, Perone, M, Fiore, V, Ventruto

Publikováno v: Annales de genetique. 29(1)

A case of de novo double independent balanced translocation t(1;7)(q44;q22), t(8;10)(q22;q26) in a girl with mild phenotypical stigmata is reported. Beside hyposomia with retarded bone age and slightly dysmorphic ear, no other abnormality was detecta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ee0a7c28b99090c44421ed38d91c2a10
https://pubmed.ncbi.nlm.nih.gov/3487281

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Two sibs affected by Pendred's syndrome in a family with recurrent goiter

Autor: M, Della Bruna, A A, Mastro, F, Lonardo, O, Ametrano, M, Della Monica, M G, D'Avanzo, A, Bianco, V, Ventruto

Publikováno v: Minerva endocrinologica. 12(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9f13259ba1da7769196d9027ff335ba4
https://pubmed.ncbi.nlm.nih.gov/3035358

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