-
12
-
-
0000838834
-
Disorders of collagen biosynthesis and structure
-
Scriver CR, Beaudet AL, Sly WS, et al (eds) The Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill
-
(1995)
, pp. 2814
-
-
Byers, P.H.1
-
15
-
-
0020405580
-
Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects
-
Papadatos CJ, Bsrtsocas CS (eds): Skeletal Dysplasias: Proceedings of the Third International Clinical Genetics Seminar. New York, Alan R Liss
-
(1982)
, pp. 441
-
-
Camera, G.1
Mastroiacovo, P.2
-
16
-
-
0021136244
-
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
-
(1984)
Am J Med Genet
, vol.17
, pp. 809
-
-
Chen, H.1
Immken, L.2
Lachman, R.3
-
49
-
-
0026587092
-
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4583
-
-
Horton, W.A.1
-
53
-
-
0026566777
-
International classification of osteochondrodysplasias
-
(1992)
Eur J Pediatr
, vol.151
, pp. 407
-
-
-
72
-
-
4243720189
-
Fetal skeletal anomalies
-
Reece EA, Hobbins JC (eds). Medicine of the Fetus and Mother, ed 2. Philadelphia, Lippincott-Raven
-
(1999)
, pp. 601
-
-
Maymon, E.1
Nores, J.2
Romero, R.3
-
75
-
-
0029056412
-
Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report
-
(1995)
Prenat Diagn
, vol.15
, pp. 665
-
-
Meizner, I.1
Barnhard, Y.2
-
83
-
-
0029125688
-
Homozygous achondroplasia US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester
-
(1995)
Radiology
, vol.196
, pp. 541
-
-
Patel, M.D.1
Filly, R.A.2
-
96
-
-
0002460939
-
Skeletal abnormalities
-
Sabbagha RE, Toig RM, Sheikh Z (eds). Diagnostic Ultrasonography Applied to Obstetrics and Gynecology. Philadelphia, JB Lippincott
-
(1994)
, pp. 539
-
-
Sabbagha, R.E.1
Toig, R.M.2
Sheikh, Z.3
-
99
-
-
0032900368
-
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
-
(1999)
Prenat Diagn
, vol.19
, pp. 21
-
-
Sawai, H.1
Komori, S.2
Ida, A.3
-
109
-
-
4243545207
-
The lethal osteochondrodysplasias
-
Harris H, Hirschhorn K (eds) Advances in Human Genetics. New York, Plenum Press
-
(1990)
, pp. 1
-
-
Spranger, J.1
Maroteaux, P.2
-
122
-
-
0030057538
-
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9
-
(1996)
Hum Genet
, vol.97
, pp. 186
-
-
Wirth, J.1
Wagner, T.2
Meyer, J.3
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