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Brachydactyly

Known as: Brachydactyly syndrome, Brachydactylies, Brachydactyly [Disease/Finding] 
Congenital anomaly of abnormally short fingers or toes.
National Institutes of Health

Related topics

Related topics

49 relations
ADAMS-OLIVER SYNDROME 5AMINOPTERIN SYNDROME SINE AMINOPTERINAarskog syndromeAchondroplasia

Narrower (15)

Acrocapitofemoral DysplasiaBRACHYDACTYLY, TYPE DBerk-Tabatznik syndromeBork Stender Schmidt syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a… 
Highly Cited
1998
Highly Cited
1998
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
Human synpolydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene. Heterozygotes are… 
1997
1997
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.
Positional cloning is occasionally facilitated by the identification of a chromosomal aberration. We are studying a Turkish… 
Highly Cited
1985
Highly Cited
1985
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.
1984
1984
Parietal foramina in Saethre-Chotzen syndrome
A father and son with Saethre-Chotzen syndrome and parietal foramina are described, to draw attention to this little known… 
1977
1977
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.
1971
1971
A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs.
1951
1951
Ectodermal dysplasia, achondrodysplasia, and congenital morbus cordis.
IN THE tenth edition of the Holt-McIntosh "Diseases of Infancy and Childhood"1a curious case is mentioned of a girl aged 4 yr… 
Highly Cited
1942
Highly Cited
1942
CONGENITAL MALFORMATIONS INDUCED IN RATS BY MATERNAL NUTRITIONAL DEFICIENCY
Congenital malformations, induced in rats by maternal nutritional deficiency, date back to the cartilaginous or precartilaginous… 
1942
1942
CONGENITAL MALFORMATIONS INDUCED IN RATS BY MATERNAL NUTRITIONAL DEFICIENCY: II. USE OF VARIED DIETS AND OF DIFFERENT STRAINS OF RATS
The appearance of congenital malformations in the offspring of female rats reared and bred on a deficient diet has been described… 
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