Publications

Bissinger RL & Koch FR. Nonlethal multiple pterygium syndrome: Escobar syndrome. Adv Neonatal Care. 2014;14(1):24-9. PMID: 24472885.

Carrera-García L et al. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Am J Med Genet A. 2019;179(6):915-926. PMID: 30868735.

Seo J et al. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. J Hum Genet. 2015;60(4):213-5. PMID: 25608830.

Vogt J et al. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 2012;49(1):21-6. PMID: 22167768.