A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin

Shira Litz Philipsborn; Shulamit Hartmajer; Atalia Shtorch Asor; Mika Vinovezky; Miriam Regev; Amihood Singer; Eyal Reinstein

doi:10.1002/ajmg.a.62119

A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin

Shira Litz Philipsborn^*, Shulamit Hartmajer^*, Atalia Shtorch Asor, Mika Vinovezky, Miriam Regev, Amihood Singer, Eyal Reinstein

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

3 Scopus citations

Original language	English
Pages (from-to)	1610-1613
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.62119
State	Published - May 2021

Access to Document

10.1002/ajmg.a.62119

Cite this

@article{f604dbebdbfc44f79d8e9b1c91214fb8,

title = "A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin",

author = "{Litz Philipsborn}, Shira and Shulamit Hartmajer and {Shtorch Asor}, Atalia and Mika Vinovezky and Miriam Regev and Amihood Singer and Eyal Reinstein",

note = "Funding Information: We would like to thank the Medical Genetics Institute of Kaplan Medical Center for providing some of the samples used for this study.",

year = "2021",

month = may,

doi = "10.1002/ajmg.a.62119",

language = "אנגלית",

volume = "185",

pages = "1610--1613",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "5",

}

TY - JOUR

T1 - A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin

AU - Litz Philipsborn, Shira

AU - Hartmajer, Shulamit

AU - Shtorch Asor, Atalia

AU - Vinovezky, Mika

AU - Regev, Miriam

AU - Singer, Amihood

AU - Reinstein, Eyal

N1 - Funding Information: We would like to thank the Medical Genetics Institute of Kaplan Medical Center for providing some of the samples used for this study.

PY - 2021/5

Y1 - 2021/5

UR - http://www.scopus.com/inward/record.url?scp=85101458409&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.62119

DO - 10.1002/ajmg.a.62119

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???

C2 - 33590725

AN - SCOPUS:85101458409

SN - 1552-4825

VL - 185

SP - 1610

EP - 1613

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 5

ER -

A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin

Access to Document

Other files and links

Cite this