Dermatology

• Absence of ulna and fibula, with severe limb deficiency | Fuhrmann syndrome (deletion/duplication analysis of WNT7A gene) + info
   
• Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene) + info
   
• Acne inversa (sequence analysis of NCSTN gene) + info
   
• Acrodermatitis enteropathica (sequence analysis of SLC39A4 gene) + info
   
• Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes) + info
   
• Adams-Oliver syndrome (AOS2, sequence analysis of DOCK6 gene) + info
   
• Adams-Oliver syndrome (AOS4, sequence analysis of EOGT gene) + info
   
• Adams-Oliver syndrome (sequence analysis of DLL4 gene) + info
   
• Adducted thumb-clubfoot syndrome (sequence analysis of CHST14 gene) + info
   
• ADULT syndrome (sequencing of the TP63 gene) + info
   
• Albinism (NGS panel of 12 genes) + info
   
• Albinism oculocutaneous (deletion/duplication analysis on OCA2 and TYR genes) + info
   
• Albinism oculocutaneous type II (sequence analysis of OCA2 gene) + info
   
• Albinism, oculocutaneous type I (sequence analysis of TYR gene) + info
   
• Alopecia universalis (sequence analysis of HR gene) + info
   
• Alveolar capillary dysplasia with misalignment of pulmonary veins (deletion/duplication analysis of 16q24.1 region) + info
   
• Alveolar capillary dysplasia with misalignment of pulmonary veins (sequence analysis of FOXF1 gene) + info
   
• ANE syndrome (sequence analysis of RBM28 gene) + info
   
• Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene) + info
   
• Anhidrotic ectodermal dysplasia (sequence analysis of EDARADD gene) + info
   

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