Article révisé par les pairs
Titre:
  • Sporadic case of trichorhinophalangeal syndrome type III in a European patient.
Auteur:Vilain, Catheline; Sznajer, Yves; Rypens, Françoise; Désir, Daniel; Abramowicz, Marc
Informations sur la publication:American journal of medical genetics, 85, 5, page (495-497)
Statut de publication:Publié, 1999-08
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Alopecia
Arthropathy
Brachydactyly
Osteodysplasia
MeSH keywords:Abnormalities, Multiple -- diagnosis
Abnormalities, Multiple -- genetics
Adult
Belgium
Body Height
Chromosome Mapping
Chromosomes, Human, Pair 8
Diagnosis, Differential
Hand Deformities, Congenital -- genetics
Humans
Hypotrichosis -- genetics
Male
Osteochondrodysplasias -- diagnosis
Osteochondrodysplasias -- genetics
Syndrome
Note générale:Case Reports
Journal Article
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0148-7299
info:doi/10.1002/(SICI)1096-8628(19990827)85:5<495::AID-AJMG12>3.0.CO;2-K
info:pii/10.1002/(SICI)1096-8628(19990827)85:5<495::AID-AJMG12>3.0.CO;2-K
info:scp/0033609845
info:pmid/10405449