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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… 
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.
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… 
Highly Cited
2012
Highly Cited
2012
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… 
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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… 
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… 
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Highly Cited
2005
Highly Cited
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… 
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Review
2004
Review
2004
Anastomotic complications after tracheal resection: prognostic factors and management.
OBJECTIVE We sought to identify risk factors for anastomotic complications after tracheal resection and to describe the… 
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Review
2003
Review
2003
Myhre syndrome: new reports, review, and differential diagnosis
Several conditions characterised by short fingers, reduced joint mobility, short stature, and muscular build with or without… 
Highly Cited
1998
Highly Cited
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… 
Review
1996
Review
1996
Laryngotracheal Manifestations of Rhinoscleroma
Rhinoscleroma is a rare, chronic granulomatous disease of infective causation. It usually begins in the nose and may progress to… 
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1974
1974
The campomelic syndrome. Congenital bowing of limbs and other skeletal and extraskeletal anomalies.
The radiographic and clinical findings of the campomelic syndrome are described. Radiographically, it is characterized by bony… 
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