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Literature DB >> 16906568

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

Elizabeth A Parker¹, Karine Hovanes, John Germak, Forbes Porter, Deborah P Merke.

Abstract

Entities: Disease Species

Mesh：

Substances：
Steroid 21-Hydroxylase

Year: 2006 PMID： 16906568 DOI： 10.1002/ajmg.a.31408

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

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11 in total

1. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors: Gabriela P Finkielstain; Wuyan Chen; Sneha P Mehta; Frank K Fujimura; Reem M Hanna; Carol Van Ryzin; Nazli B McDonnell; Deborah P Merke
Journal: J Clin Endocrinol Metab Date: 2010-10-06 Impact factor: 5.958

Review 2. Congenital Adrenal Hyperplasia.

Authors: Selma Feldman Witchel
Journal: J Pediatr Adolesc Gynecol Date: 2017-04-24 Impact factor: 1.814

3. Segmental Maternal UPD6 with Prenatal Growth Restriction.

Authors: G Poke; M Doody; J Prado; M Gattas
Journal: Mol Syndromol Date: 2012-11-20

4. The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Authors: Thomas Eggermann; Barbara Oehl-Jaschkowitz; Severin Dicks; Wolfgang Thomas; Deniz Kanber; Beate Albrecht; Matthias Begemann; Ingo Kurth; Jasmin Beygo; Karin Buiting
Journal: Mol Genet Genomic Med Date: 2017-09-22 Impact factor: 2.183

5. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity

Authors: M A Shehab; Tahseen Mahmood; M A Hasanat; Md Fariduddin; Nazmul Ahsan; Mohammad Shahnoor Hossain; Md Shahdat Hossain; Sharmin Jahan
Journal: Endocrinol Diabetes Metab Case Rep Date: 2018-10-13

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

1. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Review 2. Congenital Adrenal Hyperplasia.

3. Segmental Maternal UPD6 with Prenatal Growth Restriction.

4. The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

5. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity

Review 6. The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

7. Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Review 8. Genetics of congenital adrenal hyperplasia.

9. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

10. A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?