Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "lumping"

American Journal of Medical Genetics

Volumn 78, Issue 2, 1998, Pages 150-154

  Superti Furga, Andrea ^a   Tenconi, Romano ^b   Clementi, Maurizio ^b   Eich, Georg ^a   Steinmann, Beat ^a   Boltshauser, Eugen ^a   Giedion, Andres ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Arthrogryposis; Campomelia; Neuromotor disease; Nosology; Recessive inheritance; Skeletal dysplasia

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BONE DYSPLASIA; CASE REPORT; CHILD; CONTRACTURE; HUMAN; MYOTONIA; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FEEDING AND EATING DISORDERS OF CHILDHOOD; FOLLOW-UP STUDIES; HUMANS; MYOTONIA CONGENITA; OSTEOCHONDRODYSPLASIAS; RESPIRATORY INSUFFICIENCY; SYNDROME;

EID: 0032581120     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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