Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
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| Format: | Online |
| Language: | English |
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BioMed Central
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947303/ |
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pubmed-4947303 |
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pubmed-49473032016-07-17 Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree Makrythanasis, Periklis Guipponi, Michel Santoni, Federico A. Zaki, Maha Issa, Mahmoud Y. Ansar, Muhammad Hamamy, Hanan Antonarakis, Stylianos E. Primary Research BioMed Central 2016-07-16 /pmc/articles/PMC4947303/ /pubmed/27421267 http://dx.doi.org/10.1186/s40246-016-0082-2 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Makrythanasis, Periklis Guipponi, Michel Santoni, Federico A. Zaki, Maha Issa, Mahmoud Y. Ansar, Muhammad Hamamy, Hanan Antonarakis, Stylianos E. |
| spellingShingle |
Makrythanasis, Periklis Guipponi, Michel Santoni, Federico A. Zaki, Maha Issa, Mahmoud Y. Ansar, Muhammad Hamamy, Hanan Antonarakis, Stylianos E. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| author_facet |
Makrythanasis, Periklis Guipponi, Michel Santoni, Federico A. Zaki, Maha Issa, Mahmoud Y. Ansar, Muhammad Hamamy, Hanan Antonarakis, Stylianos E. |
| author_sort |
Makrythanasis, Periklis |
| title |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| title_short |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| title_full |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| title_fullStr |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| title_full_unstemmed |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| title_sort |
exome sequencing discloses kalrn homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| description |
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| publisher |
BioMed Central |
| publishDate |
2016 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947303/ |
| _version_ |
1613610339471982592 |