Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
about
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionCernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesisSyndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Genetics of hypogammaglobulinemia: what do we really know?XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.Genes required for B cell development.
P2860
Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Microphthalmia, facial anomali ...... lasia, and agammaglobulinemia.
@en
type
label
Microphthalmia, facial anomali ...... lasia, and agammaglobulinemia.
@en
prefLabel
Microphthalmia, facial anomali ...... lasia, and agammaglobulinemia.
@en
P2093
P2860
P356
P1476
Microphthalmia, facial anomali ...... lasia, and agammaglobulinemia.
@en
P2093
P2860
P304
P356
10.1002/AJMG.1373
P577
2001-07-01T00:00:00Z