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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon ( University of Washington ) with funding from the National Institutes of Health . [ 1 ]
Move over, Wordle, Connections and Mini Crossword—there's a new NYT word game in town! The New York Times' recent game, "Strands," is becoming more and more popular as another daily activity ...
Guerrero’s final Instagram post came days later on Feb. 2, with the hairstylist sharing photos of Kali Uchis after he did her glam waves for the 2025 Grammy Awards.
Life Extension shares 21 science-backed tips to help you establish a wellness-focused lifestyle and keep you in top-notch health as the years bring experience, wisdom, and other distinguishing traits.
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Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders .