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Meier-Gorlin syndrome.
Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x.
Orphanet J Rare Dis. 2015.
PMID: 26381604
Free PMC article.
Review.
Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood co …
Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomal …
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.
Tuck-Muller CM, Chen H, Martínez JE, Shen CC, Li S, Kusyk C, Batista DA, Bhatnagar YM, Dowling E, Wertelecki W.
Tuck-Muller CM, et al.
Hum Genet. 1995 Jul;96(1):119-29. doi: 10.1007/BF00214200.
Hum Genet. 1995.
PMID: 7607645
Review.
We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. ...
We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly …
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