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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
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A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to…
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National Institutes of Health
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Related topics
Related topics
32 relations
2-3 toe cutaneous syndactyly
Aortic Valve Stenosis
Aortic coarctation
Autosomal dominant inheritance
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Broader (4)
Congenital Hand Deformities
Facies
Growth Disorders
Intellectual Disability
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Novel SMAD4 mutation causing Myhre syndrome
V. Caputo
,
G. Bocchinfuso
,
+5 authors
M. Tartaglia
American Journal of Medical Genetics. Part A
2014
Corpus ID: 5294309
Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic…
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Review
2014
Review
2014
Myhre syndrome
C. Le Goff
,
C. Michot
,
V. Cormier-Daire
Clinical Genetics
2014
Corpus ID: 47394
Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and…
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Highly Cited
2012
Highly Cited
2012
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
C. L. Goff
,
Clémentine Mahaut
,
+14 authors
V. Cormier-Daire
Nature Genetics
2012
Corpus ID: 13042633
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
C. Le Goff
,
V. Cormier-Daire
American Journal of Medical Genetics. Part C…
2012
Corpus ID: 43530669
The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and “muscular” build. Four…
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2010
2010
Management of Postintubation Tracheal Stenosis: Appropriate Indications Make Outcome Differences
A. Melkane
,
N. Matar
,
+6 authors
G. Dabar
Respiration
2010
Corpus ID: 3816897
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.
Akbar Sadeghianrizi
,
C. Forsberg
,
C. Marcus
,
G. Dahllöf
European Journal of Orthodontics
2005
Corpus ID: 16748011
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.
C. Wright
,
H. Grillo
,
+4 authors
D. Mathisen
Journal of Thoracic and Cardiovascular Surgery
2004
Corpus ID: 24809353
Review
2003
Review
2003
Myhre syndrome: new reports, review, and differential diagnosis
L. Burglen
,
D. Heron
,
+7 authors
A. Verloes
Journal of Medical Genetics
2003
Corpus ID: 28093631
Several conditions characterised by short fingers, reduced joint mobility, short stature, and muscular build with or without…
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Highly Cited
1998
Highly Cited
1998
Upper dental arch morphology of adult unoperated complete bilateral cleft lip and palate.
O. G. da Silva Filho
,
F. de Castro Machado
,
A. C. de Andrade
,
J. A. de Souza Freitas
,
S. Bishara
American Journal of Orthodontics and Dentofacial…
1998
Corpus ID: 40748728
Literature has shown that, even with the conservative nontraumatic surgical techniques, early repairing surgeries induce changes…
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Review
1996
Review
1996
Laryngotracheal Manifestations of Rhinoscleroma
C. P. Amoils
,
M. Shindo
Annals of Otology, Rhinology and Laryngology
1996
Corpus ID: 25761862
Rhinoscleroma is a rare, chronic granulomatous disease of infective causation. It usually begins in the nose and may progress to…
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