FGFR3 mutation in Thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: Coincidence or a new association?

Genetic Counseling

Volumn 17, Issue 4, 2006, Pages 407-412

  Prontera, Paolo ^a,d   Sensi, A ^a   Pilu, G ^b   Baldi, M ^c   Baffico, M ^c   Bonasoni, P ^b   Calzolari, E ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d POLICLINICO MONTELUCE   (Italy)

Author keywords

Cystic renal dysplasia; FGFR3; Prenatal diagnosis; Thanatophoric dysplasia type 1

Indexed keywords

ARGININE; EOSIN; FIBROBLAST GROWTH FACTOR RECEPTOR 3; HEMATOXYLIN;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOGRAPHY; GENE MUTATION; HUMAN; INCIDENCE; INDUCED ABORTION; KIDNEY AGENESIS; KIDNEY CYST; KIDNEY DYSPLASIA; LABORATORY TEST; LUNG HYPOPLASIA; MOLECULAR BIOLOGY; POTTER SYNDROME; SKELETON MALFORMATION; THANATOPHORIC DWARFISM;

ABORTION, INDUCED; ADULT; FATAL OUTCOME; FEMALE; FETAL DISEASES; HUMANS; MULTICYSTIC DYSPLASTIC KIDNEY; POINT MUTATION; PREGNANCY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; THANATOPHORIC DYSPLASIA;

EID: 33847295613     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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