Browsing Centre for Genomics and Child Health by Author "Wuyts, W"
Now showing items 1-5 of 5
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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, M; Tilsen, F; Kayserili, H; Kayserili, H; Müller, D; Tüysüz, B; Ruddy, DM; Wakeling, E; Ørstavik, KH; Snape, KM (Wiley, 2015-01-01)© 2015 WILEY PERIODICALS, INC. Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological ... -
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, M; Tilsen, F; Kayserili, H; Mueller, D; Tueysuez, B; Ruddy, DM; Wakeling, E; Orstavik, KH; Snape, KM; Trembath, R (2015-06) -
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Southgate, L; Machado, RD; Snape, KM; Primeau, M; Dafou, D; Ruddy, DM; Branney, PA; Fisher, M; Lee, GJ; Simpson, MA (2011-05-13) -
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
Southgate, L; Sukalo, M; Karountzos, ASV; Taylor, EJ; Collinson, CS; Ruddy, D; Snape, KM; Dallapiccola, B; Tolmie, JL; Joss, S (2015-08) -
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
Meester, JAN; Southgate, L; Stittrich, A-B; Venselaar, H; Beekmans, SJA; den Hollander, N; Bijlsma, EK; den Enden, AH-V; Verheij, JBGM; Glusman, G (2015-09-03)