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A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

Overview

Authors: Ginat Narkis1,2,3, Vadim Dolgin1,2, Sufa Sued-Hendrickson1, Juman Zahran1,2, Bibi Kanengisser-Pines2,3, Gil Smooha-Schechter2,3, Lior Carmon3,4, Zamir Shorer3,5, Analia Michaelovsky3,6, Ohad S Birk1,2,3,7
ORCID iDs: Sufa Sued-Hendrickson, Ohad S Birk
  1. The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be’er Sheva, Israel
  2. Genetics Institute, Soroka University Medical Center, Be’er Sheva, Israel
  3. Faculty of Health Sciences, Ben Gurion University of the Negev, Be’er Sheva, Israel
  4. Pediatric Endocrinology Unit, Soroka University Medical Center, Be’er Sheva, Israel
  5. Pediatric Neurology Unit, Soroka University Medical Center, Be’er Sheva, Israel
  6. Zussman Child Development Center, Soroka University Medical Center, Be’er Sheva, Israel
  7. The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel
Institutions: Ben-Gurion University of the Negev (Israel); Soroka Medical Center (Israel); Sheba Medical Center (Israel)
Journal: HGG advances, volume 7, issue 4, article 100637
Dates: received 23 January 2026; accepted 19 June 2026; published online 24 June 2026; in print June 2026
Type: Brief report · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1016/j.xhgg.2026.100637 · PMID 42337909 · PMCID PMC13382239 · OpenAlex W7165754006
Open access: gold, a free copy (OpenAlex)
Status: code on request
Categories: developmental (subfield)
Keywords: ASCC3, developmental delay, monogenic disease, phenotype, corpus callosum, hypothyroidism, hypotonia, micropenis, lethal
Topic: Genomics and Rare Diseases (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Israel Science Foundation (2463/23); Israel Ministry of Innovation Science & Technology; Ben-Gurion University of the Negev; Naomi Prawer Kadar Foundation Inc
Citations: not cited yet (Europe PMC); 24 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

The paper says that its authors' code is available on request: it was not published with the paper, so there is nothing to verify.

The paper's code and data availability statement is in the Data section.

Tracing map

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Data

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Code and data availability statement

The paper has a code and data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

  • it says that the data are available on request
  • it says that the code is available on request

Read it in the paper: doi.org/10.1016/j.xhgg.2026.100637.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

  • Authors: added Ohad S Birk (0000-0003-1430-1296); removed Ohad S Birk

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 10 authors, 9 keywords, 4 funders, 24 references.

Cite

This paper

Narkis, G., Dolgin, V., Sued-Hendrickson, S., Zahran, J., Kanengisser-Pines, B., Smooha-Schechter, G., Carmon, L., Shorer, Z., Michaelovsky, A., & Birk, O. S. (2026). A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis. HGG advances, 7(4), 100637. https://doi.org/10.1016/j.xhgg.2026.100637

BibTeX

@article{narkis2026lethal,
author = {Narkis, Ginat and Dolgin, Vadim and Sued-Hendrickson, Sufa and Zahran, Juman and Kanengisser-Pines, Bibi and Smooha-Schechter, Gil and Carmon, Lior and Shorer, Zamir and Michaelovsky, Analia and Birk, Ohad S},
title = {{A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis}},
journal = {HGG advances},
year = {2026},
month = jun,
volume = {7},
number = {4},
pages = {100637},
publisher = {Elsevier},
issn = {2666-2477},
doi = {10.1016/j.xhgg.2026.100637},
url = {https://doi.org/10.1016/j.xhgg.2026.100637},
pmid = {42337909},
pmcid = {PMC13382239}
}

RIS

TY - JOUR
AU - Narkis, Ginat
AU - Dolgin, Vadim
AU - Sued-Hendrickson, Sufa
AU - Zahran, Juman
AU - Kanengisser-Pines, Bibi
AU - Smooha-Schechter, Gil
AU - Carmon, Lior
AU - Shorer, Zamir
AU - Michaelovsky, Analia
AU - Birk, Ohad S
TI - A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis
T2 - HGG advances
J2 - HGG Adv
PY - 2026
DA - 2026/06/24
VL - 7
IS - 4
SP - 100637
SN - 2666-2477
PB - Elsevier
DO - 10.1016/j.xhgg.2026.100637
UR - https://doi.org/10.1016/j.xhgg.2026.100637
LA - en
ER -

CSL-JSON

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