Deciphering the mutational signature of congenital limb malformations

This publication has 31 references indexed in Scilit:

• Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant
  British Journal of Dermatology, 2019
• Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
  Journal of Medical Genetics, 2018
• Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion
  Frontiers in Genetics, 2017
• Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene
  Molecular Cytogenetics, 2015
• Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia
  Orthopaedic Surgery, 2014
• To BMP or not to BMP during vertebrate limb bud development
  Seminars in Cell & Developmental Biology, 2014
• Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
  PLOS ONE, 2014
• Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
  Human Mutation, 2011
• WNT5A mutations in patients with autosomal dominant Robinow syndrome
  Developmental Dynamics, 2009
• Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
  The American Journal of Human Genetics, 2006