Associated Papers
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
A new mutation in the gene ROR2 causes brachydactyly type B1.
Huang D et al.
Gene, 2014
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
Li CM et al.
Yi Chuan = Hereditas, 2011
[Genetic analysis of the UGT1A1 gene mutation sites in a Chinese family suffered from Gilbert's syndrome].
Yu LH et al.
Yi Chuan = Hereditas, 2006
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
Afzal AR et al.
Human Mutation, 2003
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M et al.
Nature Genetics, 2000
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