3-M syndrome: a report of three Egyptian cases with review of the literature.
about
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthNeuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomalyClinical utility gene card for: 3-M syndrome - update 2013.3M syndrome: a report of four cases in two familiesClinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Clinical utility gene card for: 3M syndrome.3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy.Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
P2860
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P2860
3-M syndrome: a report of three Egyptian cases with review of the literature.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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name
3-M syndrome: a report of three Egyptian cases with review of the literature.
@ast
3-M syndrome: a report of three Egyptian cases with review of the literature.
@en
type
label
3-M syndrome: a report of three Egyptian cases with review of the literature.
@ast
3-M syndrome: a report of three Egyptian cases with review of the literature.
@en
prefLabel
3-M syndrome: a report of three Egyptian cases with review of the literature.
@ast
3-M syndrome: a report of three Egyptian cases with review of the literature.
@en
P2093
P50
P1476
3-M syndrome: a report of three Egyptian cases with review of the literature
@en
P2093
Adel M Ashour
Laila A Hosny
Mostafa I Mostafa
P356
10.1097/01.MCD.0000198926.01706.33
P577
2006-04-01T00:00:00Z