Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Micro-opthalmia"'
Autor:
Simran Madan, Wei Liu, James T. Lu, V. Reid Sutton, Bryant Toth, Priscilla Joe, John R. Waterson, Richard A. Gibbs, Ignatia B. Van den Veyver, Edward J. Lammer, Philippe M. Campeau, Brendan H. Lee
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 57-61 (2017)
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-
Externí odkaz:
https://doaj.org/article/ecd641b746a94feca94b102c41948f68
Autor:
John R. Waterson, Edward J. Lammer, Bryant A. Toth, James T. Lu, V. Reid Sutton, Philippe M. Campeau, Ignatia B. Van den Veyver, Simran Madan, Richard A. Gibbs, Wei Liu, Brendan Lee, Priscilla Joe
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 57-61 (2017)
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8658a4588e28c093e886a221ce407270
https://doi.org/10.1016/j.ymgmr.2017.06.002
https://doi.org/10.1016/j.ymgmr.2017.06.002
Autor:
Simran, Madan, Wei, Liu, James T, Lu, V Reid, Sutton, Bryant, Toth, Priscilla, Joe, John R, Waterson, Richard A, Gibbs, Ignatia B, Van den Veyver, Edward J, Lammer, Philippe M, Campeau, Brendan H, Lee
Publikováno v:
Molecular Genetics and Metabolism Reports
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::63695903b4dd9eb2b6172835c6ea7279
https://pubmed.ncbi.nlm.nih.gov/28626639
https://pubmed.ncbi.nlm.nih.gov/28626639
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