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Agonadism

National Institutes of Health

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KENNERKNECHT SYNDROME

Papers overview

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2001
2001
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with…
We report on two sisters, one 46,XX with normal female phenotype, the other 46,XY with ambiguous external genitalia and agonadism… 
1998
1998
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia
This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The… 
1997
1997
XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome.
We report on a 19-week-old fetus with a 46,XX karyotype, normal female external genitalia, complete gonadal agenesis, large… 
Highly Cited
1993
Highly Cited
1993
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.
We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations… 
1991
1991
Chromosomal anomaly and malformation syndrome with abdominal polyorchidism.
1991
1991
True agonadism: report of a case analyzed with Y-specific DNA probes.
We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and… 
1977
1977
Beckwitt-Wiedemann's syndrome with medullary sponge kidneys, agonadism and persistent testosterone production.
A patient with Beckwitt-Wiedemann's syndrome is described in which associated malformations were hemihypertrophy of the body… 
1977
1977
Endocrine and metabolic studies in a patient with male pseudohermaphroditism and true agonadism.
1974
1974
"True agonadism": a misnomer?
Review
1971
Review
1971
Sideroblastic anemia following congenital erythroid hypoplasia.
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