Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?

American Journal of Medical Genetics

Volumn 73, Issue 1, 1997, Pages 1-4

  Di Rocco, Maja ^a   Picco, Paolo ^a   Arslanian, Araxi ^b   Restagno, Gabriella ^c   Perfumo, Francesco ^a   Buoncompagni, Antonella ^a   Gattorno, Marco ^a   Borrone, Carla ^a  

^a G GASLINI INSTITUTE   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

Deafness; Eyelid ptosis; Nephronophthisis; Partial hypopituitarism; Retinitis pigmentosa; Skeletal dysplasia

Indexed keywords

CORTICOTROPIN; GROWTH HORMONE; HUMAN GROWTH HORMONE; HYDROCORTISONE; LUTEINIZING HORMONE; PROLACTIN; SOMATOMEDIN C; THYROTROPIN;

ADOLESCENT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHROMOSOME 3; GROWTH HORMONE DEFICIENCY; HEARING IMPAIRMENT; HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPOPITUITARISM; MALE; NEPHRONOPHTHISIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; HUMANS; HYPOPITUITARISM; KIDNEY DISEASES, CYSTIC; MALE; OSTEOCHONDRODYSPLASIAS; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0030697985     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y     Document Type: Article

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