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Limb Deformities, Congenital

Known as: Congenital deformity NOS of unspecified limb, CONGENITAL ABNORMALITY OF LIMB, LIMB MALFORMATION 
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (43)

ADULT SYNDROMEAcromegaloid facial appearance syndromeAcromicric DysplasiaAcropectoral syndrome
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Broader (2)

Abnormality of limbslimb defects
In BloodUnequal Limb Lengthnursing therapyprevention & control
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of… Expand
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Highly Cited
2010
Highly Cited
2010
Identification of a Primary Target of Thalidomide Teratogenicity
Thalidomide Teratogenicity Target In the late 1950s and early 1960s, thalidomide was prescribed to pregnant women as a cure for… Expand
Highly Cited
2004
Highly Cited
2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease… Expand
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Highly Cited
2004
Highly Cited
2004
Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb.
Exogenous retinoic acid (RA) induces marked effects on limb patterning, but the precise role of endogenous RA in this process has… Expand
Highly Cited
2003
Highly Cited
2003
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements… Expand
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Highly Cited
2002
Highly Cited
2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that… Expand
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Highly Cited
2001
Highly Cited
2001
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation
The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause… Expand
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Highly Cited
2001
Highly Cited
2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand
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Highly Cited
1999
Highly Cited
1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that… Expand
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