A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

פריטים דומים

• Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
  מאת: Mumtaz, Sara, et al.
  יצא לאור: (2015)
• Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
  מאת: Khurram Liaqat, et al.
  יצא לאור: (2022-04-01)
• Mutations in <it>WDR62 </it>gene in Pakistani families with autosomal recessive primary microcephaly
  מאת: Mir Asif, et al.
  יצא לאור: (2011-10-01)
• Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
  מאת: Graul-Neumann, Luitgard M, et al.
  יצא לאור: (2014)
• Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
  מאת: Kousar, Rizwana, et al.
  יצא לאור: (2011)