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

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

Recurrent fetal encephalocele despite folate substitution in consanguineous couple - a severe phenotypic expression of Joubert syndrome. / Markholt, Sara; Hansen, N. Q. ; Christensen, R. et al.
I: Abstracts from the 50th European Society of Human Genetics Conference: Posters, Bind 2019 Jul;26(Suppl 1), 01.10.2018.

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

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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",

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

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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 -