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The molecular genetics of human appendicular skeleton.
Ahmad, Safeer; Ali, Muhammad Zeeshan; Muzammal, Muhammad; Mir, Fayaz Ahmad; Khan, Muzammil Ahmad.
Affiliation
  • Ahmad S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Indus Highway, Multan Road, Dera Ismail Khan, 29050, Khyber Pakhtunkhwa, Pakistan.
  • Ali MZ; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Indus Highway, Multan Road, Dera Ismail Khan, 29050, Khyber Pakhtunkhwa, Pakistan.
  • Muzammal M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Indus Highway, Multan Road, Dera Ismail Khan, 29050, Khyber Pakhtunkhwa, Pakistan.
  • Mir FA; Translational Research Institute & Qatar Metabolic Institute, Hamad Medical Corporation, Doha, Qatar.
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Indus Highway, Multan Road, Dera Ismail Khan, 29050, Khyber Pakhtunkhwa, Pakistan. m.ahmad@gu.edu.pk.
Mol Genet Genomics ; 297(5): 1195-1214, 2022 Sep.
Article in En | MEDLINE | ID: mdl-35907958
ABSTRACT
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of "Nosology and Classification of Genetic skeletal disorders 2019 Revision". In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot disorders. To our knowledge, only nine genes of polydactyly, five genes of split-hand-foot malformation, nine genes for syndactyly, eight genes for brachydactyly and only single gene for clubfoot have been identified to be involved in disease pathophysiology. The current molecular genetic data will help life sciences researchers working on the rare skeletal disorders. Moreover, the aim of present systematic review is to gather the published knowledge on molecular genetics of appendicular skeleton, which would help in genetic counseling and molecular diagnosis.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Limb Deformities, Congenital Type of study: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limits: Humans Language: En Journal: Mol Genet Genomics Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2022 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Limb Deformities, Congenital Type of study: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limits: Humans Language: En Journal: Mol Genet Genomics Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2022 Document type: Article Affiliation country: