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Split-Hand/Foot Malformation
Known as:
Ectrodactyly
, FEWER DIGITS
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands…
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National Institutes of Health
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Related topics
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7 relations
Clinical Data Interchange Standards Consortium Terminology
Ectrodactyly
Hereditary Diseases
Split hand foot deformity 1
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update
F. Gurrieri
,
D. Everman
American journal of medical genetics. Part A
2013
Corpus ID: 11617666
We here provide an update on the clinical, genetic, and molecular aspects of split‐hand/foot malformation (SHFM). This rare…
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2010
2010
Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance
A. Blattner
,
A. Huber
,
B. Röthlisberger
American journal of medical genetics. Part A
2010
Corpus ID: 21115958
Split‐hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM…
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Highly Cited
1998
Highly Cited
1998
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.
J. R. O'Quinn
,
R. Hennekam
,
L. Jorde
,
M. Bamshad
American journal of human genetics
1998
Corpus ID: 41883484
Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants…
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Review
1996
Review
1996
The EEC syndrome: a literature study.
N. M. Roelfsema
,
J. Cobben
Clinical dysmorphology
1996
Corpus ID: 42628478
Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal…
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1991
1991
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations
T. Hasegawa
,
Y. Hasegawa
,
+4 authors
Y. Fukushima
Clinical genetics
1991
Corpus ID: 19952851
Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip…
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1991
1991
Potentiating effect of caffeine on the teratogenicity of acetazolamide in C57BL/6J mice.
S. Beck
,
C. M. Urbano
Teratology
1991
Corpus ID: 37605834
Pregnant C57BL/6J mice were treated with 0 or 50 mg of caffeine (CAFF) per kg, and 0, 200 mg/kg (L) or 1,000 mg/kg (H) of…
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Highly Cited
1985
Highly Cited
1985
EEC syndrome without ectrodactyly? Report of 8 cases
W. Küster
,
F. Majewski
,
P. Meinecke
Clinical genetics
1985
Corpus ID: 38932153
Eight cases are presented from two families with a variable manifestation of the EEC syndrome. In the first family only one of…
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Highly Cited
1984
Highly Cited
1984
Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
B. Mondino
,
P. Bath
,
R. Foos
,
L. Apt
,
G. Rajacich
American journal of ophthalmology
1984
Corpus ID: 29742016
1971
1971
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.
H. Pashayan
,
F. Fraser
,
J. Mcintyre
,
J. S. Dunbar
The Journal of bone and joint surgery. British…
1971
Corpus ID: 11283492
1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and…
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Highly Cited
1970
Highly Cited
1970
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.
R. Rüdiger
,
W. Haase
,
E. Passarge
American journal of diseases of children
1970
Corpus ID: 40617757
The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3…
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