A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Overview of attention for article published in American Journal of Medical Genetics. Part A, February 2020

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A baby from our NICU, very interesting story from Dr. @pankajagrawalb team! A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. - PubMed - NCBI https://t…

Another of our paper out in AJMG, a very interesting and inspiring story. "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. - PubMed - NCBI https://t…

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. - PubMed - NCBI https://t.co/GNOgWg7nsv

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