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MECP2

Allan-Herndon-Dudley syndrome

May 21 2016

Recommended panel testing at Breda Genetics for this condition: Allan-Herndon-Dudley syndrome and its differential diagnosis (ABCD1, ASPA, ARSA, GALC, GJC2, MECP2, PLP1, SLC16A2, SMS, THRA) Summary Allan-Herndon-Dudley syndrome (AHDS), also known as MCT8-specific thyroid hormone cell-membrane transporter deficiency, is a rare disorder of brain development with neuromuscular involvement accompanied by specific changes in circulating thyroid

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Congenital central hypoventilation syndrome

February 9 2016

Recommended panel testing at Breda Genetics for this condition: Central hypoventilation syndrome (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) Summary Congenital central hypoventilation syndrome (CCHS, also known as congenital Ondine curse, from the myth of Ondine, who was cursed to think consciously of breathing even in sleep) is a rare congenital genetic disease caused by

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Newly identified genes in Rett-like patients

November 22 2015

Rett and Rett-like disorders Breda Genetics panel recommended for this conditions: Rett and Rett-like syndrome disorders (MECP2, FOXG1, CDKL5, MEF2C, TCF4, GABRD, WDR45, SMC1A) Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. Being most frequently transmitted as an X-linked dominant disorder caused by MECP2 mutations (90% of cases), RTT primarily affects

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