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A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice

Majid Alfadhel1,2,3, Muhammad Umair2, Abeer Al Tuwaijri2,4

  • 1Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 14611, Saudi Arabia.

Clinical Chemistry
|January 4, 2023
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ARSBMPS type VIcompound heterozygous variantsnext-generation sequencing

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