Fig. 1 | Human Genome Variation

Fig. 1

From: Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Fig. 1

(a, b) Heterozygous mutations in EGFR detected in our patient. a Nonsense mutation, c.292C > T, p.R98X (exon 3). b Missense mutation, c.1094T > A, p.I365N (exon 9). c The schema of the location of domains and mutations in EGFR. d–g Histopathology of our patient: hematoxylin and eosin staining of brain tissue, Masson’s staining of dermal and kidney tissues. (d), e Skin tissue. The patient showed multiple subcorneal pustules on the skin. Decreasing dermal density and number of sweat glands. Hair follicles, eccrine glands, and sebaceous glands were reduced. f Brain. Hypomyelination of white matter (asterisks). g Kidney tissue. Multiple dilation of renal tubules (arrows) and expansion of the interstitium

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