Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants

European Journal of Human Genetics

Volumn 23, Issue 7, 2015, Pages 907-914

  Paumard Hernández, Beatriz ^a   Berges Soria, Julia ^b   Barroso, Eva ^a,b   Rivera Pedroza, Carlos I ^a   Pérez Carrizosa, Virginia ^a   Benito Sanz, Sara ^a,b   López Messa, Eva ^a   Santos, Fernando ^a,b   García Recuero, Ignacio I ^c   Romance, Ana ^c   Ballesta Martínez, Juliana María ^b,d   López González, Vanesa ^b,d   Campos Barros, Ángel ^a,b   Cruz, Jaime ^c   Guillén Navarro, Encarna ^b,d,e   Sánchez Del Pozo, Jaime ^c   Lapunzina, Pablo ^a,b   García Miñaur, Sixto ^a,b   Heath, Karen E ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^e CATHOLIC UNIVERSITY OF MURCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

LZTR1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; EFNB1 PROTEIN, HUMAN; EPHRIN B1; FGFR1 PROTEIN, HUMAN; FGFR2 PROTEIN, HUMAN; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NUCLEAR PROTEIN; TCF12 PROTEIN, HUMAN; TWIST RELATED PROTEIN 1; TWIST1 PROTEIN, HUMAN;

ARTICLE; CHROMOSOME 22; CHROMOSOME LOSS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LZTR1 GENE; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEURILEMOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHWANNOMATOSIS; COHORT ANALYSIS; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEK293 CELL LINE; MUTATION; PEDIGREE; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; SPAIN;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; COHORT STUDIES; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EPHRIN-B1; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEK293 CELLS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPAIN; TWIST-RELATED PROTEIN 1;

EID: 84930871930     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.205     Document Type: Article

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