Growth mental deficiency syndrome of Myhre

Known as: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE, Growth-mental deficiency syndrome of Myhre, MYHRS 
A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to… (More)
National Institutes of Health

Related topics

Related topics

32 relations
2-3 toe cutaneous syndactylyAortic Valve StenosisAortic coarctationAutosomal dominant inheritance
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Broader (4)

Congenital Hand DeformitiesFaciesGrowth DisordersIntellectual Disability

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Relative validation of a pre-coded food diary in a group of Norwegian adults – Comparison of underreporters and acceptable reporters
Estimating dietary intake is important for both epidemiological and clinical studies. In large studies, a balance has to be… (More)
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2014
2014
Novel SMAD4 mutation causing Myhre syndrome.
Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic… (More)
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Review
2012
Review
2012
From tall to short: the role of TGFβ signaling in growth and its disorders.
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four… (More)
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2012
2012
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
This article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years… (More)
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Highly Cited
2011
Highly Cited
2011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism… (More)
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2010
2010
Management of postintubation tracheal stenosis: appropriate indications make outcome differences.
BACKGROUND Laryngotracheal stenosis is difficult to treat and its etiologies are multiple; nowadays, the most common ones are… (More)
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2005
2005
Craniofacial development in obese adolescents.
The purpose of this study was to investigate craniofacial morphology in obese adolescents and to compare the morphological data… (More)
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2005
2005
Dentomaxillofacial imaging in Proteus syndrome.
Proteus syndrome is a rare condition that involves atypical growth of the bones, skin and head and a variety of other symptoms… (More)
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2005
2005
Endoscopic laser excision in the management of laryngotracheal stenosis.
Sixteen cases of Chronic laryngotracheal stensis were included in the study. They underwent endoscopic CO(2) laser excision of… (More)
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1998
1998
Upper dental arch morphology of adult unoperated complete bilateral cleft lip and palate.
Literature has shown that, even with the conservative nontraumatic surgical techniques, early repairing surgeries induce changes… (More)
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