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Bone Diseases, Developmental
Known as:
BONE DEVELOPMENT DISORDER
, Bone Diseases, Developmental [Disease/Finding]
, Dysplasias, Bone
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Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
National Institutes of Health
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Related topics
Related topics
49 relations
Narrower (38)
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Acrocapitofemoral Dysplasia
Acromicric Dysplasia
Angel shaped phalangoepiphyseal dysplasia
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Connective Tissue Diseases
Connective and Soft Tissue
Growth Disorders
In Blood
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
RARE BONE DISEASE ( C LANGMAN AND E SHORE , SECTION EDITORS ) Melorheostosis : a Rare Sclerosing Bone Dysplasia
A. Kotwal
,
B. Clarke
2017
Corpus ID: 32977074
Purpose of Review Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue…
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Review
2005
Review
2005
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass
S. Ferrari
,
S. Deutsch
,
S. Antonarakis
Current Opinion in Lipidology
2005
Corpus ID: 40927713
Purpose of review This review summarizes recent findings concerning the genomic variations of the lipoprotein receptor-related…
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Highly Cited
2000
Highly Cited
2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Alain Verloes
,
S. Lesenfants
,
+5 authors
Elisabeth Roeder
American journal of medical genetics
2000
Corpus ID: 42028544
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial…
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2000
2000
Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21–22—evidence for a common genetic defect
J. Martignetti
,
B. Gelb
,
H. Pierce
,
P. Picci
,
R. Desnick
Genes, Chromosomes and Cancer
2000
Corpus ID: 45047844
Hereditary cancers represent a unique opportunity to investigate the genetic etiology of their more common sporadic forms. We…
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1990
1990
Sex steroid hormone receptors in normal and dysplastic bone disorders in children
J. Pensler
,
C. Langman
,
+4 authors
R. Higbee
Journal of Bone and Mineral Research
1990
Corpus ID: 40922269
Children with monostotic and polyostotic bone dysplasias often exhibit localized bone overgrowth. We investigated the presence of…
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1982
1982
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).
Paul von Oeyen
,
Paul von Oeyen
,
+4 authors
N. T. Griscom
American journal of medical genetics
1982
Corpus ID: 21185788
Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now…
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Highly Cited
1980
Highly Cited
1980
Osteochondroma with spinal cord compression: report of three cases.
Palmer Fj
,
Blumencranz Pw
1980
Corpus ID: 199592493
✓ Multiple osteochondromatosis is the most common of the bone dysplasias, but neurological complications are rare…
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Review
1969
Review
1969
Radiology of bone diseases
G. B. Greenfield
1969
Corpus ID: 70422141
In the preface to the second edition of this substantial work dealing with the radiology of diseases of bone, the author sets…
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Highly Cited
1967
Highly Cited
1967
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.
B. Dudding
,
R. Gorlin
,
L. Langer
A M A Journal of Diseases of Children
1967
Corpus ID: 32761562
TAYBI, in 1962, reported a case of "generalized skeletal dysplasia with multiple anomalies," suggesting that this possibly…
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Highly Cited
1966
Highly Cited
1966
An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations.
J. Melnick
,
C. F. Needles
The American journal of roentgenology, radium…
1966
Corpus ID: 38075402
A severe bone abnormality was observed in a 3 year old white female which led to a family study of 4 generations. Nine of the 14…
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