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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations - European Journal of Human Genetics

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations - European Journal of Human Genetics

Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup of ARMs due to uncertainty regarding its diagnostic yield.

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations - European Journal of Human Genetics

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations - European Journal of Human Genetics

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