Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

Journal of medical genetics

Volumn 38, Issue 6, 2001, Pages

  Hiel, J A ^a   Weemaes, C M ^a   van Engelen, B G ^a   Smeets, D ^a   Ligtenberg, M ^a   van Der Burgt, I ^a   van Den Heuvel, L P ^a   Cerosaletti, K M ^a   Gabreels F J ^a   Concannon, P ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN;

CASE REPORT; CHROMOSOME ABERRATION; CRANIOFACIAL MALFORMATION; FACIES; GENETICS; HEARING IMPAIRMENT; HUMAN; IMMUNE DEFICIENCY; LETTER; MALE; METABOLISM; MUTATION; NEWBORN; RADIATION DOSE; SYNDROME; X RAY;

CHROMOSOME ABERRATIONS; CRANIOFACIAL ABNORMALITIES; DEAFNESS; FACIES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; RADIATION TOLERANCE; SYNDROME; X-RAYS;

MLCS; MLOWN;

EID: 0035374871     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.38.6.e19     Document Type: Letter

References (0)