At least 1 person in 200 000 healthy people have a genetic mutation that should guarantee cystic fibrosis.Study Outcome

Extract from Table 4 "Candidates identified in the Resilience Project": 3 people with cystic fibrosis (Severe pulmonary disease, childhood-onset), 2 people with Smith-Lemli-Opitz syndrome (Severe developmental disorder, probably embryonic lethal), 1 person with Familial dysautonomia (Severe neurological disease, high mortality in early childhood), 1 person with Epidermolysis Bullosa simplex (Severe dermatologic condition, infantile onset), 1 person with Pfeiffer syndrome (Severe congenital skeletal dysplasia with variable expressivity), 1 person with APECED (Severe childhood-onset autoimmune disease), 1 person with Acampomelic campomelic dysplasia (Severe skeletal dysplasia with early childhood death), 3 people with Atelosteogenesis (Severe early-onset skeletal dysplasia with variable expressivity)

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