Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene.
Articolo
Data di Pubblicazione:
2008
Citazione:
Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene / Iughetti, Lorenzo; Sobrier, Ml; Predieri, Barbara; Netchine, I; Carani, Cesare; Bernasconi, S; Balli, Fiorella; Amselem, S.. - In: CLINICAL ENDOCRINOLOGY. - ISSN 0300-0664. - STAMPA. - 69:1(2008), pp. 170-172. [10.1111/j.1365-2265.2007.03157.x]
Abstract:
We report a case of two Moroccan siblings (a girl and a boy) withsevere dwarfism. The parents are first cousins with normal height(father 175·1 cm, 0·06 SDS, mother 160·5,−0·28 SDS). They had three other daughters and one son, who died within the first 3 years of life, for unknown reasons. They have another living daughter of normal height for age.
Tipologia CRIS:
Articolo su rivista
Keywords:
GH deficiency; GH-1; phenotype; endocrinology; pediatrics
Elenco autori:
Iughetti, Lorenzo; Sobrier, Ml; Predieri, Barbara; Netchine, I; Carani, Cesare; Bernasconi, S; Balli, Fiorella; Amselem, S.
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