Výsledky vyhledávání - "Andrés, Barrios R"

[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]

Autor: Fanny, Cortés M, M Angélica, Alliende R, Andrés, Barrios R, Bianca, Curotto L, Lorena, Santa María V, Ximena, Barraza O, Ledia, Troncoso A, Cecilia, Mellado S, Rosa, Pardo V

Publikováno v: Revista medica de Chile. 133(1)

Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::00acb6bbc1999f2fa46bb9dfb650e8d4
https://pubmed.ncbi.nlm.nih.gov/15768148

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Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Autor: Fanny Cortés M, M. Angélica Alliende R, Andrés Barrios R, Bianca Curotto L, Lorena Santa María V, Ximena Barraza O, Ledia Troncoso A, Cecilia Mellado S, Rosa Pardo V

Publikováno v: Revista médica de Chile v.133 n.1 2005
SciELO Chile
CONICYT Chile
instacron:CONICYT

Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::919bb75197a8e95a0b9c59efd094540f
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000100005

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