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Congenital absence

Known as: ABSENCE CONGENITAL, agenesis 
National Institutes of Health

Related topics

Related topics

50 relations
ANONYCHIAAblepharonAbsence of bladderAcrania

Narrower (8)

Agenesis of vaginaAplasia of muscleCongenital absence of kidneyCongenital absence of kidneys syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense‐mediated mRNA decay
Recently, GATA6 heterozygous loss‐of‐function mutations were reported to cause pancreatic agenesis and congenital heart defects… 
2007
2007
Dorsal pancreatic agenesis.
CONTEXT Agenesis of the dorsal pancreas is a rare entity and might present with various symptoms. We report a case which… 
Review
1999
Review
1999
Congenital Absence of the Long Process of the Incus
Objective/Hypothesis: To review the case reports of three generations of one family, suffering from bilateral conductive hearing… 
Highly Cited
1993
Highly Cited
1993
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
To the Editor: We have previously described an increased frequency of the δF508 mutation of the cystic fibrosis gene in a group… 
1987
1987
Congenital absence of the gallbladder and cystic duct: nonoperative diagnosis.
A case of congenital absence of the gallbladder and cystic duct diagnosed by nonoperative means is presented. Hitherto, confident… 
1978
1978
Neuropathic form of arthrogryposis multiplex congenita Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles
Highly Cited
1977
Highly Cited
1977
The Split Thickness Graft Technic for Vaginal Agenesis
A heterogenous group of patients with agenesis of the vagina treated at The Johns Hopkins Hospital between 1956 and 1975 is… 
1973
1973
A case of agenesis and a case of rupture of the pectoralis major muscle.
Highly Cited
1972
Highly Cited
1972
Aplasia of one thyroid lobe.
1955
1955
Vitamin A deficiency in infancy.
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