Fig. 2: Molecular data of the patient. | Human Genome Variation

Fig. 2: Molecular data of the patient.

From: Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

Fig. 2: Molecular data of the patient.The alternative text for this image may have been generated using AI.

a Sanger sequencing showing the c.1103_1108del, p.N368_S370delinsT variant. The parents of the patient were heterozygous carriers. The 6-bp deletion was located within the fourth N-glycosylation motif (N-L-S). b The results of comparative genomic hybridization using a SNP + CGH array. The gray-shaded areas depict regions of loss of heterozygosity (LOH). The LOH region on chromosome 16 included IGFALS.

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