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OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Known as:
OSMD
National Institutes of Health
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Related topics
Related topics
2 relations
Autosomal recessive inheritance
Developmental delay (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia
M. Miryounesi
,
A. Nikfar
,
+7 authors
Hassan Rokni-Zadeh
Annals of Human Genetics
2020
Corpus ID: 203622098
Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal‐recessive disorder and a distinctive type of osteopetrosis…
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Review
2015
Review
2015
Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review
Helin Zheng
,
Jinhua Cai
,
Longlun Wang
,
Xiaoya He
Skeletal Radiology
2015
Corpus ID: 29315307
Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in…
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2012
2012
OSMD: Cultural competence tool for research, education, and practice
R. L. Tadlock-Marlo
,
Danny Applegate
2012
Corpus ID: 68788287
2002
2002
Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures
Emilie A. Mennel
,
S. John
Pediatric Radiology
2002
Corpus ID: 5546244
Abstract. We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs…
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