Prenatal diagnosis of hypochondroplasia: Report of two cases

American Journal of Medical Genetics

Volumn 140 A, Issue 9, 2006, Pages 998-1003

  Karadimas, C ^a   Sifakis, S ^b   Valsamopoulos, P ^a   Makatsoris, C ^a   Velissariou, V ^a   Nasioulas, G ^c   Petersen, M B ^d   Koumantakis, E ^b   Hatzaki, A ^a  

^a Gastroenterology Department   (Greece)

^b UNIVERSITY OF CRETE   (Greece)

^c HYGEIA HOSPITAL   (Greece)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

FGFR3; HCH; Hypochondroplasia; N540K; Non lethal skeletal dysplasia; Prenatal diagnosis

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIPARIETAL DISTANCE; BONE DYSPLASIA; CASE REPORT; CORRELATION ANALYSIS; CYTOGENETICS; DIAGNOSTIC ACCURACY; ECHOGRAPHY; FEMALE; FETUS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GESTATIONAL AGE; HUMAN; HYPOCHONDROPLASIA; LORDOSIS; MOLECULAR GENETICS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; FEMALE; FETAL DISEASES; HUMANS; KARYOTYPING; MALE; OSTEOCHONDRODYSPLASIAS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 33646093019     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31177     Document Type: Article

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