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

15 Downloads (Pure)

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

Access to Document

10.1097/mcd.0000000000000412

Ohdo syndrome Revision accepted

Cite this

@article{adff942ac1424da2852a74aaf0937094,

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",

year = "2022",

month = apr,

doi = "10.1097/mcd.0000000000000412",

language = "English",

volume = "31",

pages = "101--105",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "2",

}

TY - JOUR

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/

U2 - 10.1097/mcd.0000000000000412

DO - 10.1097/mcd.0000000000000412

M3 - Article

SN - 0962-8827

VL - 31

SP - 101

EP - 105

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 2

ER -

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

Access to Document

Other files and links

Cite this