Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: A novel association

Prenatal Diagnosis

Volumn 26, Issue 3, 2006, Pages 258-261

  Karadimas, Charalampos ^a   Trouvas, Dimitrios ^a   Haritatos, George ^a   Makatsoris, Constantinos ^a   Dedoulis, Evangelos ^a   Velissariou, Voula ^a   Antoniadi, Thalia ^a   Hatzaki, Angeliki ^a   Petersen, Michael B ^b,c  

^a 'Mitera' Maternity and Surgical Center   (Greece)

^b Institute of Child Health   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Achondroplasia; FGFR3; Multiple suture synostosis; Prenatal diagnosis

Indexed keywords

ACHONDROPLASIA; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ECHOGRAPHY; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MOLECULAR GENETICS; PERINATAL CARE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNOSTOSIS;

ACHONDROPLASIA; ADULT; CRANIOSYNOSTOSES; EXONS; FEMALE; FETAL DISEASES; HUMANS; MUTATION; PREGNANCY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; ULTRASONOGRAPHY, PRENATAL;

EID: 33645422454     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1392     Document Type: Article

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