X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

Helen McDermott; Vidya Garikapati; Júlia Baptista; Harsha Gowda; Swati Naik

doi:10.1097/mcd.0000000000000412

X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

Helen McDermott
, Vidya Garikapati
, Júlia Baptista
, Harsha Gowda
, Swati Naik

Peninsula Medical School

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

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Original language	English
Pages (from-to)	101-105
Number of pages	0
Journal	Clinical Dysmorphology
Volume	31
Issue number	2
Early online date	Apr 2022
DOIs	https://doi.org/10.1097/mcd.0000000000000412
Publication status	Published - Apr 2022

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10.1097/mcd.0000000000000412

Ohdo syndrome Revision accepted

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title = "X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing",

author = "Helen McDermott and Vidya Garikapati and J{\'u}lia Baptista and Harsha Gowda and Swati Naik",

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T1 - X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

AU - McDermott, Helen

AU - Garikapati, Vidya

AU - Baptista, Júlia

AU - Gowda, Harsha

AU - Naik, Swati

PY - 2022/4

Y1 - 2022/4

UR - https://pearl.plymouth.ac.uk/pms-research/554/

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ER -

X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

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