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Titlebook: Genetic Syndromes; A Comprehensive Refe Nima Rezaei Living reference work 2025Latest edition Congenital Malformations.Congenital Abnormali

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17-Beta-Hydroxysteroid Dehydrogenase X Deficiency,.
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Absence Deformity of Leg, with Congenital Cataract,.
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Decolonizing Educational Assessment Models, a 14.7 years old girl with short stature and delayed puberty; the diagnosis was made on the urinary steroid profile. It is a rare disorder described in a few families across the globe. The classic form is usually present in infancy, but cases have also been reported with onset in childhood and adults.
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Decolonizing Philosophies of Educationis. Finally, it led to the introduction of a new syndrome, which is characterized by female to male sex reversal along with anomalies of the kidneys, adrenal glands, and lungs. It is known that it has an antenatal onset with a rare prevalence (less than 1/1000000) (Mandel et al. 2008; OrphaNet 2008).
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