Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2641-2644

  Bessenyei, Beáta ^a   Nagy, Andrea ^a   Balogh, Erzsébet ^a   Novák, László ^a   Bognár, László ^a   Knegt, Alida C ^b   Oláh, Éva ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Achondroplasia; Craniosynostosis; Multiple suture

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GLYCINE;

ACHONDROPLASIA; ARTICLE; BONE RADIOGRAPHY; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CRANIOPLASTY; CRANIOTOMY; DISEASE ASSOCIATION; DWARFISM; EXON; FEMALE; FEMUR MALFORMATION; FGFR3 GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HAND MALFORMATION; HUMAN; HYDROCEPHALUS; INFANT; MUTATIONAL ANALYSIS; OXYCEPHALY; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SKULL MALFORMATION;

ACHONDROPLASIA; CRANIOSYNOSTOSIS; MULTIPLE-SUTURE;

ACHONDROPLASIA; BONE AND BONES; CHROMOSOME BANDING; CRANIOSYNOSTOSES; EXONS; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT, NEWBORN; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SKULL;

EID: 84884986481     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36130     Document Type: Article

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