Muscle spasms as presenting feature of <scp>Nivelon‐Nivelon‐Mabile</scp> syndrome-Reference-Cited by-同舟云学术

Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome

Published:2022-10-22 Issue:1 Volume:191 Page:238-248
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Saini Neelam¹,Das Bhowmik Aneek²^ORCID,Yareeda Sireesha³,Venkatapuram Vijayasree¹,Jabeen Shaik Afshan³,Tallapaka Karthik²,Dalal Ashwin⁴^ORCID,Aggarwal Shagun¹⁴^ORCID

Affiliation:

1. Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India

2. Diagnostics Services (NGS) AIC ‐ Centre for Cellular & Molecular Biology (AIC‐CCMB), CCMB Annexe II Hyderabad India

3. Department of Neurology Nizam's Institute of Medical Sciences Hyderabad India

4. Diagnostics Division Centre for DNA Fingerprinting & Diagnostics Hyderabad India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63000

Reference14 articles.

1. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia

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3. Structure, mechanism, and inhibition of Hedgehog acyltransferase

4. Sonic hedgehog patterning during cerebellar development

5. Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

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