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GLI3-related disorder

MedGen UID:
893349
•Concept ID:
CN239292
•
Disease or Syndrome
Synonyms: GLI3-related condition; GLI3-Related Disorders

Recent clinical studies

Diagnosis

GLI3-related polydactyly: a review.
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS
Clin Genet 2017 Nov;92(5):457-466. Epub 2017 Feb 22 doi: 10.1111/cge.12952. PMID: 28224613

Prognosis

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T
Am J Med Genet A 2021 Dec;185(12):3831-3837. Epub 2021 Jul 23 doi: 10.1002/ajmg.a.62426. PMID: 34296525

Clinical prediction guides

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T
Am J Med Genet A 2021 Dec;185(12):3831-3837. Epub 2021 Jul 23 doi: 10.1002/ajmg.a.62426. PMID: 34296525

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    Related information

    • ClinVar
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    • PubMed
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