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pro vyhledávání: '"Dagmar Kinderman"'
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Autor:
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple as
Externí odkaz:
https://doaj.org/article/192b518261284b67aa8698531fe44ec0
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Autor:
Dagmar Kinderman, Ricki Carroll, Tim Niiler, Christy Jordan, Angela L. Duker, David A. Parry, Louise Thompson, Carissa M. Baker-Smith, Michael B. Bober
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated
Autor:
Angela L. Duker, Michael B. Bober, Dagmar Kinderman, Bwee Tien Poll-The, Monica Schouten, Tim Niiler, Nancy Braverman
Publikováno v:
American journal of medical genetics. Part A, 182(3), 579-583. Wiley-Liss Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e752a0531283bb308752a225def976ca
https://pure.amc.nl/en/publications/rhizomelic-chondrodysplasia-punctata-morbidity-and-mortality-an-update(08881d61-dcc7-48c0-b49f-1d232d66dbd5).html
https://pure.amc.nl/en/publications/rhizomelic-chondrodysplasia-punctata-morbidity-and-mortality-an-update(08881d61-dcc7-48c0-b49f-1d232d66dbd5).html