Abstract: Acrodysostosis is a rare skeletal dysplasia, which has not been reported previously in patients of Chinese origin. The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis. A Chinese girl with acrodysostosis and concomitant multiple hormone resistance was recruited for our study. Clinical and biochemical characters were analyzed. DNA was extracted from leukocytes and was sequenced for GNAS, PDE4D and PRKAR1A gene mutations. A de novo heterozygous missense mutation (c.866G>A/p.G289E) was identified in the PRKAR1A gene. This mutation coincided with a mutation that had been found in a patient from another ethnic group. Our findings further suggest that the c.866G>A/p.G289E mutation in the PRKAR1A ...
Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infec...
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodys-plasia characteriz...
Full list of author information is available at the end of the articleADPKD is a hereditary renal di...
Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to ...
Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe bra...
Background: Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with ...
Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the lim...
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and go...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
Background. Mutations in the COL4A5 gene, encod-ing the 5 chain of type IV collagen, are responsible...
Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterize...
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, ...
We have identified two families with a previously undescribed lethal X-linked disorder of infancy; t...
International audienceAcrodysostosis (MIM 101800) is a dominantly inherited condition associating (1...
Background Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defec...
Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infec...
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodys-plasia characteriz...
Full list of author information is available at the end of the articleADPKD is a hereditary renal di...
Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to ...
Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe bra...
Background: Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with ...
Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the lim...
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and go...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
Background. Mutations in the COL4A5 gene, encod-ing the 5 chain of type IV collagen, are responsible...
Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterize...
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, ...
We have identified two families with a previously undescribed lethal X-linked disorder of infancy; t...
International audienceAcrodysostosis (MIM 101800) is a dominantly inherited condition associating (1...
Background Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defec...
Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infec...
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodys-plasia characteriz...
Full list of author information is available at the end of the articleADPKD is a hereditary renal di...
Add to ORKG