Výsledky vyhledávání - "Cedric Thues"

Akademický článek

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome

Autor: Cedric Thues, Jorge S. Valadas, Liesbeth Deaulmerie, Ann Geens, Amit K. Chouhan, Ramon Duran-Romaña, Joost Schymkowitz, Frederic Rousseau, Michaela Bartusel, Rizwan Rehimi, Alvaro Rada-Iglesias, Patrik Verstreken, Hilde Van Esch

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

Abstract Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and ho

Externí odkaz: https://doaj.org/article/21a523c5582d4005ad24a2cf349d7f1b

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MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome

Autor: Rizwan Rehimi, Amit K Chouhan, Joost Schymkowitz, Michaela Bartusel, Jorge S. Valadas, Ramon Duran-Romaña, Patrik Verstreken, Frederic Rousseau, Cedric Thues, Hilde Van Esch, Ann Geens, Alvaro Rada-Iglesias, Liesbeth Deaulmerie

Publikováno v: Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
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Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and homozygous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b42b5c367711dd64d9075979ca9af48

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A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

Autor: Cedric Thues, Sarah Lechner, Barbara Neerinckx, Rene Westhovens, Hilde Van Esch, Carine Wouters

Publikováno v: Human Genome Variation

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::572f588caba3ad1b915a3ef42825895b
https://doi.org/10.1038/hgv.2015.49

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