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Craniodiaphyseal dysplasia
Known as:
CDD
National Institutes of Health
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Related topics
Related topics
4 relations
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
SOST wt Allele
Broader (2)
Craniofacial Abnormalities
Osteochondrodysplasias
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia
W. C. Chan
,
K. Tsang
,
+8 authors
D. Chan
Human Molecular Genetics
2017
Corpus ID: 28101550
Bone remodeling is a balanced process between bone synthesis and degradation, maintaining homeostasis and a constant bone mass in…
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Highly Cited
2011
Highly Cited
2011
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
S. Kim
,
T. Biegański
,
+14 authors
D. Jin
Human Genetics
2011
Corpus ID: 19256149
Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We…
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Review
2009
Review
2009
The Erlenmeyer flask bone deformity in the skeletal dysplasias
Maha Faden
,
D. Krakow
,
F. Ezgu
,
D. Rimoin
,
R. Lachman
American Journal of Medical Genetics. Part A
2009
Corpus ID: 22847656
Erlenmeyer flask bone deformity (EFD) is a long‐standing term used to describe a specific abnormality of the distal femora. The…
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Review
2005
Review
2005
Health-related quality of life in adults after repair of congenital diaphragmatic defects--a questionnaire study.
A. Koivusalo
,
M. Pakarinen
,
K. Vanamo
,
H. Lindahl
,
R. Rintala
Journal of Pediatric Surgery
2005
Corpus ID: 24361834
2004
2004
MR imaging features of craniodiaphyseal dysplasia
F. Marden
,
F. Wippold
Pediatric Radiology
2004
Corpus ID: 34063509
We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed…
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2001
2001
Stenosis of the cervical canal in craniodiaphyseal dysplasia.
S. Naique
,
V. Laheri
Journal of Bone and Joint Surgery-british Volume
2001
Corpus ID: 30349192
Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression…
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2001
2001
Single factor stochastic models with seasonality applied to underlying weather derivatives variables
Hipòlit Torró i Enguix
,
V. Ferrer
,
Enric Valor i Mico
2001
Corpus ID: 56385414
This paper estimates single factor stochastic models describing daily air temperature behaviour. We modify classical financial…
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Review
1996
Review
1996
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management
A. Richards
,
C. Brain
,
M. J. Dillon
,
C. Bailey
Journal of Laryngology and Otology
1996
Corpus ID: 11557600
Abstract Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long…
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1986
1986
Dominantly inherited craniodiaphyseal dysplasia: A new craniotubular dysplasia
B. Schaefer
,
S. Stein
,
+5 authors
O. Brown
Clinical Genetics
1986
Corpus ID: 25153614
We describe a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial…
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Highly Cited
1969
Highly Cited
1969
Frontometaphyseal Dysplasia: A New Syndrome
R. Gorlin
,
M. Cohen
1969
Corpus ID: 38971132
THIS REPORT was prompted by the discovery of a patient with an unknown osseous dysplasia. We have chosen the…
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