Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Human mutation

Volumn 28, Issue 2, 2007, Pages 205-206

  Borck, Guntram ^a   Zarhrate, Mohamed ^a   Bonnefont, Jean Paul ^a   Munnich, Arnold ^a   Cormier Daire, Valérie ^a   Colleaux, Laurence ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; CHILD; DE LANGE SYNDROME; GENETIC SCREENING; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRESCHOOL CHILD; SEQUENCE ALIGNMENT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; GENETIC SCREENING; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEINS; SEQUENCE ALIGNMENT;

EID: 33847704182     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9478     Document Type: Article

References (0)