Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family

Aditi Nilesh Shirodkar; K. A. Akhil; Vivekananda Bhat; Hitesh Shah; Anju Shukla; Radhakrishnan Periyasamy

doi:10.1097/MCD.0000000000000520

Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family

Aditi Nilesh Shirodkar
, K. A. Akhil
, Vivekananda Bhat
, Hitesh Shah
, Anju Shukla
, Radhakrishnan Periyasamy^*

^*Corresponding author for this work

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

Original language	English
Article number	10.1097/MCD.0000000000000520
Pages (from-to)	102-106
Number of pages	5
Journal	Clinical Dysmorphology
Volume	34
Issue number	3
DOIs	https://doi.org/10.1097/MCD.0000000000000520
Publication status	Published - 01-07-2025

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

Access to Document

10.1097/MCD.0000000000000520

Cite this

@article{721a15e7efc543ad9aedf6b155b7b652,

title = "Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family",

author = "Shirodkar, \{Aditi Nilesh\} and Akhil, \{K. A.\} and Vivekananda Bhat and Hitesh Shah and Anju Shukla and Radhakrishnan Periyasamy",

year = "2025",

month = jul,

day = "1",

doi = "10.1097/MCD.0000000000000520",

language = "English",

volume = "34",

pages = "102--106",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "3",

}

TY - JOUR

T1 - Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family

AU - Shirodkar, Aditi Nilesh

AU - Akhil, K. A.

AU - Bhat, Vivekananda

AU - Shah, Hitesh

AU - Shukla, Anju

AU - Periyasamy, Radhakrishnan

PY - 2025/7/1

Y1 - 2025/7/1

UR - https://www.scopus.com/pages/publications/105000150374

UR - https://www.scopus.com/pages/publications/105000150374#tab=citedBy

U2 - 10.1097/MCD.0000000000000520

DO - 10.1097/MCD.0000000000000520

M3 - Article

C2 - 40073198

AN - SCOPUS:105000150374

SN - 0962-8827

VL - 34

SP - 102

EP - 106

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 3

M1 - 10.1097/MCD.0000000000000520

ER -

Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Cite this