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.

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]

Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene.

IUGHETTI, Lorenzo;PREDIERI, Barbara;CARANI, Cesare;BALLI, Fiorella;
2008

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.
69(1)
170
172
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]
Iughetti, Lorenzo; Sobrier, Ml; Predieri, Barbara; Netchine, I; Carani, Cesare; Bernasconi, S; Balli, Fiorella; Amselem, S.
File in questo prodotto:
File Dimensione Formato  
Clin Endocrinol final paper.pdf

non disponibili

Tipologia: Post-print dell'autore (bozza post referaggio)
Dimensione 122.14 kB
Formato Adobe PDF
122.14 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/612273
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 10
  • ???jsp.display-item.citation.isi??? 8
social impact