Search Results - "Thues, Cedric"

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome by Thues, Cedric, Valadas, Jorge S., Deaulmerie, Liesbeth, Geens, Ann, Chouhan, Amit K., Duran-Romaña, Ramon, Schymkowitz, Joost, Rousseau, Frederic, Bartusel, Michaela, Rehimi, Rizwan, Rada-Iglesias, Alvaro, Verstreken, Patrik, Van Esch, Hilde

“…Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs,…”
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A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings by Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde

“…Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with…”
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