Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

Gabriela Jones; Katie Johnson; Jacqueline Eason; Mark Hamilton; Deborah Osio; Farah Kanani; Julia Baptista; Mohnish Suri

doi:10.1016/j.ejmg.2022.104572

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

Gabriela Jones^*
, Katie Johnson
, Jacqueline Eason
, Mark Hamilton
, Deborah Osio
, Farah Kanani
, Julia Baptista
, Mohnish Suri^*

^*Corresponding author for this work

Peninsula Medical School

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

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Original language	English
Number of pages	0
Journal	European Journal of Medical Genetics
Volume	65
Issue number	10
Early online date	10 Aug 2022
DOIs	https://doi.org/10.1016/j.ejmg.2022.104572
Publication status	Published - Oct 2022

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10.1016/j.ejmg.2022.104572

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title = "Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome",

author = "Gabriela Jones and Katie Johnson and Jacqueline Eason and Mark Hamilton and Deborah Osio and Farah Kanani and Julia Baptista and Mohnish Suri",

year = "2022",

month = oct,

doi = "10.1016/j.ejmg.2022.104572",

language = "English",

volume = "65",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

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T1 - Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

AU - Jones, Gabriela

AU - Johnson, Katie

AU - Eason, Jacqueline

AU - Hamilton, Mark

AU - Osio, Deborah

AU - Kanani, Farah

AU - Baptista, Julia

AU - Suri, Mohnish

PY - 2022/10

Y1 - 2022/10

UR - https://pearl.plymouth.ac.uk/pms-research/572/

U2 - 10.1016/j.ejmg.2022.104572

DO - 10.1016/j.ejmg.2022.104572

M3 - Article

SN - 1769-7212

VL - 65

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 10

ER -

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

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