(Q38330068)

English

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency

scientific article published on March 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

ambiguous genitalia

0 references

congenital adrenal hyperplasia

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

1 reference

10.1210/JCEM.74.3.1740503

https://api.crossref.org/works/10.1210/JCEM.74.3.1740503

13 November 2022

1 reference

10.1210/JCEM.74.3.1740503

https://api.crossref.org/works/10.1210/JCEM.74.3.1740503

13 November 2022

1 reference

based on heuristic

inferred from title

author name string

R. Ahlgren

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

T. Yanase

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

E. R. Simpson

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

J. S. Winter

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

M. R. Waterman

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740503

13 November 2022

language of work or name

0 references

publication date

1 March 1992

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

full work available at URL

http://academic.oup.com/jcem/article-pdf/74/3/667/10501400/jcem0667.pdf

Portable Document Format

1 reference

10.1210/JCEM.74.3.1740503

https://api.crossref.org/works/10.1210/JCEM.74.3.1740503

13 November 2022

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

74

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

667-672

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Identifiers

10.1210/JCEM.74.3.1740503

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

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