Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Journal of Medical Genetics

Volumn 40, Issue 6, 2003, Pages 436-440

  Rio, M ^a   Clech, L ^a   Amiel, J ^a   Faivre, L ^a   Lyonnet, S ^a   Le Merrer, M ^a   Odent, S ^b   Lacombe, D ^c   Edery, P ^d   Brauner, R ^e   Raoul, O ^a   Gosset, P ^a   Prieur, M ^a   Vekemans, M ^a   Munnich, A ^a   Colleaux, L ^a   Cormier Daire, V ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c HÔPITAL PELLEGRIN   (France)

^d HÔPITAL DEBROUSSE   (France)

^e SAINT JOSEPH HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY GROWTH; BONE AGE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GROWTH DISORDER; HUMAN; MACROCEPHALY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOTOS SYNDROME; WEAVER SYNDROME;

EID: 0038207021     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.6.436     Document Type: Article

References (15)

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