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Aplasia/hypoplasia involving bones of the extremities

MedGen UID:
892895
•Concept ID:
C4073181
•
Finding
HPO: HP:0045060

Recent clinical studies

Etiology

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article
Human syndromes with congenital patellar anomalies and the underlying gene defects.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015

Diagnosis

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

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