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. Author manuscript; available in PMC: 2024 Jul 1.
Published in final edited form as: Clin Dysmorphol. 2023 Feb 28;32(3):112–115. doi: 10.1097/MCD.0000000000000452

Figure 2:

Figure 2:

A) Integrative genomic viewer showing absence of reads of exons 3 and 4 in FUCA1 B) qPCR analysis depicting homozygous deletion in proband and heterozygous deletion in the parents in FUCA1