Recurrent fetal encephalocele despite folate substitution in consanguineous couple - a severe phenotypic expression of Joubert syndrome

Sara Markholt, N. Q. Hansen, R. Christensen, OB Petersen, Ida Vogel

Originalsprog	Engelsk
Tidsskrift	Abstracts from the 50th European Society of Human Genetics Conference: Posters
Vol/bind	2019 Jul;26(Suppl 1)
DOI	https://doi.org/10.1038/s41431-018-0247-7
Status	Udgivet - 1 okt. 2018

Adgang til dokumentet

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

@article{4c07dd5bce934510b4bb769372284a29,

title = "Recurrent fetal encephalocele despite folate substitution in consanguineous couple - a severe phenotypic expression of Joubert syndrome",

author = "Sara Markholt and Hansen, {N. Q.} and R. Christensen and OB Petersen and Ida Vogel",

year = "2018",

month = oct,

day = "1",

doi = "10.1038/s41431-018-0247-7",

language = "English",

volume = "2019 Jul;26(Suppl 1)",

journal = "Abstracts from the 50th European Society of Human Genetics Conference: Posters",

}

TY - ABST

T1 - Recurrent fetal encephalocele despite folate substitution in consanguineous couple - a severe phenotypic expression of Joubert syndrome

AU - Markholt, Sara

AU - Hansen, N. Q.

AU - Christensen, R.

AU - Petersen, OB

AU - Vogel, Ida

PY - 2018/10/1

Y1 - 2018/10/1

U2 - 10.1038/s41431-018-0247-7

DO - 10.1038/s41431-018-0247-7

M3 - Conference abstract in journal

VL - 2019 Jul;26(Suppl 1)

JO - Abstracts from the 50th European Society of Human Genetics Conference: Posters

JF - Abstracts from the 50th European Society of Human Genetics Conference: Posters

ER -