Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
free free
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Nijmegen breakage syndrome van der Burgt I; Chrzanowska KH; Smeets D; Weemaes CJ Med Genet 1996[Feb]; 33 (2): 153-6Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.|*Genes, Recessive[MESH]|Abnormalities, Multiple/*genetics[MESH]|Ataxia Telangiectasia/*genetics[MESH]|Diagnosis, Differential[MESH]|Dwarfism/*genetics[MESH]|Female[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|Immunologic Deficiency Syndromes/*genetics[MESH]|Infant, Newborn[MESH]|Infections/etiology[MESH]|Intellectual Disability/genetics[MESH]|Male[MESH]|Microcephaly/*genetics[MESH]|Neoplasms/etiology[MESH]|Netherlands/epidemiology[MESH]|Pigmentation Disorders/genetics[MESH]|Prenatal Diagnosis[MESH]|Syndrome[MESH]|alpha-Fetoproteins/analysis[MESH] |