Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion

Child's Nervous System

Volumn 30, Issue 12, 2014, Pages 2157-2161

  Fernández Jaén, Alberto ^a   Fernández Perrone, Ana Laura ^a   Fernández Mayoralas, Daniel Martín ^a   Calleja Pérez, Beatriz ^b   Sánchez Hombre, María del Carmen ^c   Fernández, Ester Corbacho ^c   López Martín, Sara ^d  

^a Neurology Service   (Spain)

^b Doctor Cirajas Healthcare Center   (Spain)

^c Genetics Department Circagen   (Spain)

^d UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

4q27 deletion; Craniosynostosis; FGF2; NUDT6; SPRY1

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; MEMBRANE PROTEIN; NUDT6 PROTEIN, HUMAN; PHOSPHOPROTEIN; PROTEIN; SPRY1 PROTEIN, HUMAN;

CASE REPORT; CHILD; CHROMOSOME 4; CHROMOSOME DELETION; CRANIOFACIAL SYNOSTOSIS; FACIES; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; MULTIPLE MALFORMATION SYNDROME; MUSCLE ATROPHY; PSYCHOMOTOR DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CRANIOSYNOSTOSES; FACIES; FETAL GROWTH RETARDATION; FIBROBLAST GROWTH FACTOR 2; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUSCULAR ATROPHY; PHOSPHOPROTEINS; PROTEINS; PSYCHOMOTOR DISORDERS;

EID: 84937965911     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-014-2474-8     Document Type: Article

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