Type B1 Brachydactyly

11/01/2012 - "The C-terminus of Ror2, which is deleted in brachydactyly type B (BDB), is essential for the mutual interaction with the SH1 domain of Src. "
01/01/2009 - "Brachydactyly type B (BDB) is an autosomal dominant disease caused by mutations in the ROR2 gene. "
01/15/2007 - "We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). "
02/01/2004 - "To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB). "
10/01/2000 - "Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. "

04/01/2013 - "Brachydactyly type B1 (BDB1), an autosomal dominant condition characterized by terminal deficiency of the fingers and toes, results from mutations in the gene ROR2 encoding a receptor tyrosine kinase. "
10/01/2000 - "Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B."
08/01/2000 - "The recent identification of ROR2, encoding an orphan receptor tyrosine kinase, as the gene mutated in brachydactyly type B (BDB1; ref. "
03/01/2000 - "Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B."
04/01/2019 - "Mutations in the human receptor tyrosine kinase ROR2 are associated with Robinow syndrome (RRS) and brachydactyly type B1. "

01/01/2012 - "Brachydactyly type B is a skeletal malformation that has been associated with increased Bone Morphogenetic Protein pathway activation in other patients. "
08/01/2007 - "A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN."
01/01/2012 - "We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. "
01/01/2012 - "Previously, the amino acid change p.G92E in NOGGIN was described as causing fibrodysplasia ossificans progressiva, a rare genetic disorder characterized by limb malformations and progressive heterotopic bone formation in soft tissues that, like Brachydactyly type B, is caused by increased activation of Bone Morphogenetic Protein signaling. "
07/01/2008 - "Mutations in the NOG gene which encodes the noggin protein, a bone morphogenetic protein antagonist, have been identified in TCS as well as in four other autosomal dominant disorders including proximal symphalangism (SYM1), multiple synostosis (SYNS1), Tarsal-Carpal coalition syndrome and brachydactyly type B (BDB). "

07/01/2009 - "Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome. "
08/01/2007 - "Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients. "

04/01/2013 - "A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B."

08/01/2014 - "The noncanonical Wnt receptor and tyrosine kinase Ror2 has been associated with recessive Robinow syndrome (RRS) and dominant brachydactyly type B1. "

01/01/2012 - "We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. "
01/01/2012 - "Previously, the amino acid change p.G92E in NOGGIN was described as causing fibrodysplasia ossificans progressiva, a rare genetic disorder characterized by limb malformations and progressive heterotopic bone formation in soft tissues that, like Brachydactyly type B, is caused by increased activation of Bone Morphogenetic Protein signaling. "

07/01/2008 - "Mutations in the NOG gene which encodes the noggin protein, a bone morphogenetic protein antagonist, have been identified in TCS as well as in four other autosomal dominant disorders including proximal symphalangism (SYM1), multiple synostosis (SYNS1), Tarsal-Carpal coalition syndrome and brachydactyly type B (BDB). "