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Figure 1 Madarosis in lamellar ichthyosis

Figure 1 Historical perspective on filaggrin rese...

Figure 1 Lamelar ichthyosis and poor brittle hair...

Figure 1 Pedigree of families with novel mutation...

Figure 2 Areas consistent with ichthyosis uteri i...

Fig. 1 Clinical features of the male patient. (...

Figure 3 Section shows compact orthokeratosis, ke...

Figure 1 Clinical photograph of the case showing:...

Figure 3 Skin punch biopsy in ichthyosis showing:...

Fig 12 Tangential lighting nicely demonstrates ...

Figure 9 Skin biopsy from a patient with HIV-asso...

Figure 4 Physiological role(s) of ABCA12 in lipid...

Figure 1 Enzymatic stages in distal cholesterol m...

Figure 1 Newborn phenotype.A,B. Mutant newborn mi...

Figure 2 Macroscopic phenotypes of ML.VS transgen...

Fig 6 Hyperkeratotic disorders due to mutation...

Table 1 Examples for syndromal deafness [1], [13...

Figure 6 Verification of identified disease-causi...

Figure 5 Identification of two novel mutations in...

Figure 6 Ranks of FST in a section of Chromosome ...

Figure 6 Ichthyosis and inflammation are absent i...

Figure 6. Prolonged exposure of transplanted Matri...

Figure 1 Weight and histopathological analyses of...

Figure 4 Prioritization results per disease.Each ...

Figure 1 Extraoral profile of the patient

Figure 2 Hypopigmented scars

Figure 3 Epidermolysis bullosa on hands

Figure 4 Epidermolysis bullosa on feet

Figure 5 Figure showing swollen gums

Figure 6 Intraoral view

Figure 1 Photographs of patients with typical fea...

Figure 2 Partial resolution of ectropion after 2 ...

Figure 4 Complete resolution of ectropion at 6 mo...

Figure 1 Bilateral upper lid ectropion with collo...

Figure 1 Novel TGM1 mutations associated with lam...

Figure 1 Diffuse alopecia of scalp (a)-cicatricia...

Figure 2 Photophobia and erythrokeratoderma of bo...

Figure 3 Diffuse hyperpigmentation and hyperkerat...

Figure 4 Keratoderma of (a) palm; (b) soles

Figure 5 Slit lamp examination showing vascularis...
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