Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.

Journal of medical genetics

Volumn 42, Issue 9, 2005, Pages

  Douglas, J ^a   Tatton Brown, K ^a   Coleman, K ^a   Guerrero, S ^a   Berg, J ^a   Cole, T R ^a   Fitzpatrick, D ^a   Gillerot, Y ^a   Hughes, H E ^a   Pilz, D ^a   Raymond, F L ^a   Temple, I K ^a   Irrthum, A ^a   Schouten, J P ^a   Rahman, N ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

CASE CONTROL STUDY; GENE DELETION; GENETICS; GROWTH DISORDER; HUMAN; LEARNING DISORDER; LETTER; METHODOLOGY; MOLECULAR GENETICS; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE; SYNDROME;

BASE SEQUENCE; CASE-CONTROL STUDIES; GENE DELETION; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEARNING DISORDERS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SYNDROME;

EID: 33746661657     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.031930     Document Type: Letter

References (0)