Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics. Part A 2009-04, Vol.149A (4), p.788-792
Hauptverfasser:	Isidor, Bertrand, Le Merrer, Martine, Ramos, Emmanuelle, Baron, Sabine, David, Albert
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Diseases of the osteoarticular system Human Growth Hormone - deficiency Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Nephritis, Interstitial - genetics Ophthalmology Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Radiography Retinitis Pigmentosa - genetics Retinopathies Syndrome
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