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Abnormal external genitalia

 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A case of leucocyte chimerism (78,XX/78,XY) in a dog with a disorder of sexual development.
A 1-year-old Shih Tzu dog was presented for examination because of abnormal external genitalia. A residual penis with a prepuce… Expand
Highly Cited
2012
Highly Cited
2012
Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.
CONTEXT Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY… Expand
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2011
2011
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly… Expand
2010
2010
Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling.
544 A 36-year-old woman, gravida 4, para 0, was referred for amniocentesis at 18 gestational weeks because of advanced maternal… Expand
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2009
2009
Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder
We report on a 7‐year‐old girl with unequivocal features of Barber–Say syndrome (BSS): generalized hypertrichosis especially at… Expand
2008
2008
Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia
Isodicentric chromosomes are considered the most common structural abnormality of the human Y chromosome. Because of their… Expand
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2008
2008
Hematocolpometra associated with an imperforate hymen and acute urinary retention mimicking a pelvic mass.
A 12-year-old female was previously sent to the emergency department because of a sudden onset of lower abdominal pain and the… Expand
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Highly Cited
2004
Highly Cited
2004
A possible common origin of “Y-negative” human XX males and XX true hermaphrodites
SummaryWe have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these… Expand
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2004
2004
Testicular neoplasia in undescended testes of cryptorchid boys-does surgical strategy have an impact on the risk of invasive testicular neoplasia?
UNLABELLED We investigated whether or not surgical strategy has an impact on the risk of invasive testicular neoplasia in cases… Expand
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2002
2002
Association of unilateral renal agenesis and genital anomalies
Congenital unilateral renal agenesis occurs in 0.93–1.8 per 1000 autopsies, and is usually diagnosed on an incidental imaging… Expand
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