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Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., et al. (1997) TCOF1 Gene Encodes a Putative Nucleolar Phosphoprotein That Exhibits Mutations in Treacher Collins Syndrome throughout Its Coding Region. Proceedings of the National Academy of Sciences of the United States of America, 94, 3110-3115.
https://doi.org/10.1073/pnas.94.7.3110

has been cited by the following article:

• TITLE: Left-Sided Facial Defects in a Child with Goldenhar Syndrome at a Tertiary Facility in Nigeria

  AUTHORS: Emmanuel U. Eyo-Ita, Wilson O. Osarogiagbon, Ifueko A. Eyo-Ita, Aisha O. Suleiman

  KEYWORDS: Cleft Lip/Palate, Goldenhar Syndrome, Anophthalmia, Treacher Collins, Microphthalmia, Microtia

  JOURNAL NAME: Open Journal of Pediatrics, Vol.12 No.4, September 9, 2022

  ABSTRACT: We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial septal defect, and abnormal fusion of the medial ends of her ribs prior to their insertion into the sternum. She presented on account of respiratory difficulty following bouts of feed aspiration. Cautious feeding and the need for respiratory support are important aspects of care in patients with Goldenhar syndrome.