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Abnormal external genitalia

National Institutes of Health

Papers overview

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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… 
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… 
2010
2010
Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling.
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… 
2008
2008
Hematocolpometra associated with an imperforate hymen and acute urinary retention mimicking a pelvic mass.
2008
2008
A case of female epispadias.
2005
2005
Double aneuploidy involving trisomy 7 with Potter sequence.
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… 
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… 
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… 
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