FGFR1 mutations cause hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Journal of Medical Genetics

Volumn 50, Issue 9, 2013, Pages 585-592

  Simonis, Nicolas ^a   Migeotte, Isabelle ^a,b   Lambert, Nelle ^a,b   Perazzolo, Camille ^a   de Silva, Deepthi C ^c   Dimitrov, Boyan ^d   Heinrichs, Claudine ^e   Janssens, Sandra ^f   Kerr, Bronwyn ^g   Mortier, Geert ^h   Van Vliet, Guy ^e,i   Lepage, Philippe ^e   Casimir, Georges ^e   Abramowicz, Marc ^a,b   Smits, Guillaume ^b,e   Vilain, Catheline ^b,e  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c UNIVERSITY OF KELANIYA   (Sri Lanka)

^d GUY S HOSPITAL   (United Kingdom)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

ⁱ UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; MAGNESIUM; PROTEIN TYROSINE KINASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL GENE; ECTRODACTYLY; EXOME; FEMALE; FETUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HARTSFIELD SYNDROME; HOLOPROSENCEPHALY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SCHOOL CHILD;

MUS; VERTEBRATA;

CLINICAL GENETICS; DEVELOPMENTAL; GENETICS;

BASE SEQUENCE; BINDING SITES; CLEFT LIP; CLEFT PALATE; EXOME; FEMALE; FINGERS; GENOMICS; HAND DEFORMITIES, CONGENITAL; HOLOPROSENCEPHALY; HUMANS; INDEL MUTATION; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; SEQUENCE ANALYSIS, DNA;

EID: 84883170151     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101603     Document Type: Article

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