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Spondylocostal dysostosis in South African sisters
Spondylocostal dysostosis in South African sisters,10.1111/j.1399-0004.1981.tb00662.x,Clinical Genetics,P. Beighton,F. T. Horan
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Spondylocostal dysostosis in South African sisters
(
Citations: 7
)
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P. Beighton
,
F. T. Horan
Journal:
Clinical Genetics - CLIN GENET
, vol. 19, no. 1, pp. 23-25, 2008
DOI:
10.1111/j.1399-0004.1981.tb00662.x
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References
(4)
Spondylocostal dysplasia☆A dominantly inherited form of short-trunked dwarfism
(
Citations: 35
)
David L. Rimoin
,
Barry D. Fletcher
,
Victor A. McKusick
Journal:
American Journal of Medicine - AMER J MED
, vol. 45, no. 6, pp. 948-953, 1968
Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity
(
Citations: 18
)
Erik A. Devos
,
Jules G. Leroy
,
Jan J. Braeckman
,
Leon J. Vanden Bulcke
,
Leonard O. Langer
Journal:
European Journal of Pediatrics - EUR J PEDIAT
, vol. 128, no. 1, pp. 7-15, 1978
Recessive spondylocostal dysostosis: Two new cases
(
Citations: 8
)
Margherita Cirillo Silengo
,
Sebastiano Cavallaro
,
Piergiorgio Franceschini
Journal:
Clinical Genetics - CLIN GENET
, vol. 13, no. 3, pp. 289-294, 2008
Spondylo-thoracic Dysplasia in Three Sisters
(
Citations: 12
)
I. Pascual Castroviejo
,
T. Rodriguez-Costa
,
F. Castillo
Journal:
Developmental Medicine and Child Neurology - DEVELOP MED CHILD NEUROL
, vol. 15, no. 3, pp. 348-354, 2008
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Citations
(7)
Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae
(
Citations: 2
)
Amaka Offiah
,
Benjamin Alman
,
Alberto S. Cornier
,
Philip F. Giampietro
,
Olivier Tassy
,
Angie Wade
,
Peter D. Turnpenny
Journal:
American Journal of Medical Genetics Part A - AM J MED GENET PART A
, 2010
Familial Jarcho-Levin syndrome
(
Citations: 3
)
M. G. Romeo
,
G. Distefano
,
D. Dt Bella
,
A. Mangiagli
,
L. Caltabiano
,
S. Roccaro
,
F. Mollica
Journal:
Clinical Genetics - CLIN GENET
, vol. 39, no. 4, pp. 253-259, 2008
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
(
Citations: 17
)
A. S. Cornier
,
S. Arroyo
,
J. Acevedo
,
S. Carlo
,
B. Korf
Journal:
American Journal of Medical Genetics - AMER J MED GENET
, vol. 128A, no. 2, pp. 120-126, 2004
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations: Pseudodominant inheritance, spondylocostal dysostosis type 1
(
Citations: 7
)
NV Whittock
,
S Ellard
,
J Duncan
,
CEM De Die-Smulders
,
JSH Vles
,
PD Turnpenny
Journal:
Clinical Genetics - CLIN GENET
, vol. 66, no. 1, pp. 67-72, 2004
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
(
Citations: 5
)
Neil V. Whittock
,
Peter D. Turnpenny
,
Joep Tuerlings
,
Sian Ellard
Journal:
Prenatal Diagnosis - PRENATAL DIAG
, vol. 23, no. 7, pp. 575-579, 2003