Acrocephalopolysyndactyly type 2

Known as: Carpenter 's Syndrome, CARPENTER SYNDROME 1, carpenter's syndrome 
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1953-2018
051019532017

Papers overview

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2015
2015
As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII… (More)
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2015
2015
Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular… (More)
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Highly Cited
2014
Highly Cited
2014
OBJECTIVE The use of the new International Association of the Diabetes and Pregnancy Study Groups criteria (IADPSGC) for the… (More)
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2013
2013
Stomata are highly specialized organs that consist of pairs of guard cells and regulate gas and water vapor exchange in plants [1… (More)
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2011
2011
OBJECTIVE The objective of the study was to compare perinatal outcomes among women diagnosed with gestational diabetes by the… (More)
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2011
2011
Study of mixing is important in understanding transport of submicron sized particles in the acinar region of the lung. In this… (More)
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2010
2010
We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter… (More)
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2003
2003
OBJECTIVE To investigate whether different degrees of maternal glucose intolerance are associated with the risk of spontaneous… (More)
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1985
1985
Recently, we evaluated three sibs with Carpenter syndrome, permitting further clinical, orthopedic, radiographic, and… (More)
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