Majewski Syndrome

Known as: Short-Rib Thoracic Dysplasia 6 with or without Polydactyly, SHORT RIB-POLYDACTYLY SYNDROME, TYPE II, SRTD6 
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the… (More)
National Institutes of Health

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2012
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity… (More)
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Highly Cited
2012
Highly Cited
2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are… (More)
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2012
2012
BACKGROUND Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised… (More)
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2007
Highly Cited
2007
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia… (More)
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2000
Highly Cited
2000
dHAND is a basic helix-loop-helix (bHLH) transcription factor essential for cardiovascular development. Here we analyze its… (More)
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Highly Cited
1997
Highly Cited
1997
During exercise, large pleural, abdominal, and transdiaphragmatic pressure swings might produce substantial rib cage (RC… (More)
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Highly Cited
1994
Highly Cited
1994
STUDY DESIGN Lung volumes and rib mobility were measured in 15 women with kyphosis resulting from spinal osteoporosis and in 15… (More)
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1985
Highly Cited
1985
The influence of age and posture on compliance of the rib cage (Crc) and diaphragm-abdomen (Cab) compartments of the chest wall… (More)
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1983
1983
Lenz-Majewski syndrome is a rare disorder of unknown etiology. The condition is characterized by a disproportionately large head… (More)
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1976
Highly Cited
1976
This paper describes a simple method for the recording of rib deformity in idiopathic scoliosis. The relationships have been… (More)
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