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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Fig. 1

(F1) Sequence of the patients of Family 1 showed a heterozygous mutation c.3047-2A > G. (F2) Sequence of the patient of Family 2 showed a heterozygous mutation c.2478 + 5G > A. (F3) Sequence of the patient of Family 3 showed a reported mutation c.489delC. (F4) Sequence of the patients of Family 4 showed a heterozygous mutation c.648delC

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172