BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Autoria(s): Deveault C.; Billingsley G.; Duncan J.L.; Bin J.; Theal R.; Vincent A.; Fieggen K.J.; Gerth C.; Noordeh N.; Traboulsi E.I.; Fishman G.A.; Chitayat D.; Knueppel T.; Millán J.M.; Munier F.L.; Kennedy D.; Jacobson S.G.; Innes A.M.; Mitchell G.A.; Boycott K.; Héon E.
Data(s)

2011
Identificador

https://serval.unil.ch/?id=serval:BIB_5B48DF8B902A

isbn:1098-1004 (Electronic)

pmid:21344540

doi:10.1002/humu.21480

isiid:000291564000012
Idioma(s)

en
Fonte

Human Mutation, vol. 32, no. 6, pp. 610-619
Tipo

info:eu-repo/semantics/article

article
Acesso ao item digital