p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome

Author:

Al-Haggar Mohammad,Yahia Soheir,Damjanovich Kristy,Ahmad Nermin,Hamada Iman,Bayrak-Toydemir Pinar

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996;65:277–81.

2. Burzynski NJ, Podruch PE, Howell J, Snawder K. Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings. Oral Surg Oral Med Oral Pathol. 1975;39(6):893–900.

3. Buyukavci M, Tan H, Eren S, Balci S. A whistling face syndrome case with bilateral skin dimples. Genet Couns. 2005;16(1):71–3.

4. Freeman E, Sheldon J. Cranio-carpo-tarsai dystrophy: undescribed congenital malformation. Arch Dis Child. 1938;13:277–83.

5. Krakowiak PA, O’Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, et al. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet. 1997;60(2):426–32.

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