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hlhs
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- ... leads to isolated craniosynostosis. acrocephalosyndactyly 3 ACS3 B-HLH DNA binding protein CRS1 H-twist SCS Transcription ...
- X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than ...
- ... D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, ...
- ... Santoro A, Filipovich A, Arico M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic ... and STXBP2 are associated with adult-onset familial HLH. Blood. 2011 Nov 24;118(22):5794-8. ...
- ... Santoro A, Filipovich A, Arico M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic ...
- ... alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. ...
- ... underdevelopment of the left side of the heart (hypoplastic left heart syndrome); feeding difficulties in infancy; short stature; frequent ear ...
- ... also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many ...
- ... also leads to a condition called hemophagocytic lymphohistiocytosis (HLH) in people with Griscelli syndrome type 2. This ...