Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A

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DOI: 10.1038/ejhg.2010.132
Published: 2011 Jan
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/ejhg.2010.132,
  title = {Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.},
  author = {Kahrizi K and Hu CH and Garshasbi M and Abedini SS and Ghadami S and Kariminejad R and Ullmann R and Chen W and Ropers HH and Kuss AW and Najmabadi H and Tzschach A},
  year = {2011},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/ejhg.2010.132},
  url = {https://doi.org/10.1038/ejhg.2010.132}
}

RIS

TY  - JOUR
TI  - Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
AU  - Kahrizi K
AU  - Hu CH
AU  - Garshasbi M
AU  - Abedini SS
AU  - Ghadami S
AU  - Kariminejad R
AU  - Ullmann R
AU  - Chen W
AU  - Ropers HH
AU  - Kuss AW
AU  - Najmabadi H
AU  - Tzschach A
PY  - 2011
JO  - European journal of human genetics : EJHG
DO  - 10.1038/ejhg.2010.132
UR  - https://doi.org/10.1038/ejhg.2010.132
ER  -

APA

K, K., CH, H., M, G., SS, A., S, G., R, K., R, U., W, C., HH, R., AW, K., H, N., & A, T. (2011). Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.. European journal of human genetics : EJHG. https://doi.org/10.1038/ejhg.2010.132

Source records

pubmed · retrieved 2026-09-26T02:23:37.724Z