Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

Jonathan Lim; Rachel Hall; Scott Grist; David M. Ross

doi:10.1016/j.pathol.2021.12.299

Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

Jonathan Lim, Rachel Hall, Scott Grist, David M. Ross

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

Original language	English
Pages (from-to)	958-959
Number of pages	2
Journal	Pathology
Volume	54
Issue number	7
DOIs	https://doi.org/10.1016/j.pathol.2021.12.299
Publication status	Published or Issued - Dec 2022
Externally published	Yes

ASJC Scopus subject areas

Pathology and Forensic Medicine

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10.1016/j.pathol.2021.12.299

Cite this

@article{60dc95050cb6447897516b56eedb824e,

title = "Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy",

author = "Jonathan Lim and Rachel Hall and Scott Grist and Ross, {David M.}",

note = "Funding Information: We thank the patient for her assistance and permission to publish this case report.",

year = "2022",

month = dec,

doi = "10.1016/j.pathol.2021.12.299",

language = "English",

volume = "54",

pages = "958--959",

journal = "Pathology",

issn = "0031-3025",

publisher = "Lippincott Williams and Wilkins",

number = "7",

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TY - JOUR

T1 - Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

AU - Lim, Jonathan

AU - Hall, Rachel

AU - Grist, Scott

AU - Ross, David M.

N1 - Funding Information: We thank the patient for her assistance and permission to publish this case report.

PY - 2022/12

Y1 - 2022/12

UR - http://www.scopus.com/inward/record.url?scp=85142439362&partnerID=8YFLogxK

U2 - 10.1016/j.pathol.2021.12.299

DO - 10.1016/j.pathol.2021.12.299

M3 - Letter

C2 - 35304013

AN - SCOPUS:85142439362

SN - 0031-3025

VL - 54

SP - 958

EP - 959

JO - Pathology

JF - Pathology

IS - 7

ER -

Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

ASJC Scopus subject areas

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