Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Journal article

Peer reviewed

Wedad Fallatah, Monica Schouten, Christine Yergeau, Erminia Di Pietro, Marc Engelen, Hans R. Waterham, Bwee Tien Poll-The and Nancy Braverman

Journal of inherited metabolic disease, Vol.44(4), pp.1021-1038

07/2021

PMID: 33337545

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Title: Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata
Creators - without role: Wedad Fallatah - McGill University Health Centre
Monica Schouten - Amsterdam University Medical Centers
Christine Yergeau - McGill University Health Centre
Erminia Di Pietro - McGill University Health Centre
Marc Engelen - Amsterdam University Medical Centers
Hans R. Waterham - Amsterdam University Medical Centers
Bwee Tien Poll-The - Amsterdam University Medical Centers
Nancy Braverman - McGill University Health Centre
Publication Details: Journal of inherited metabolic disease, Vol.44(4), pp.1021-1038
Identifiers: 9934885208331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article