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Results Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6?months or (1b) before the age of 5?years, and (2) patients with prolonged survival into childhood, adolescence or adulthood.
Results Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6?months or (1b) before the age of 5?years, and (2) patients with prolonged survival into childhood, adolescence or adulthood.
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