Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.

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How a Genetic Counselor Can Help You

A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.

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Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.

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Conference Events and Activities

Conference Events and Activities

We are thrilled to offer a variety of activities and events for our community at this year’s conference. There is a ton to do at the Mall of America and we want you to take full advantage! Please note that we will close discount ticket sales when Early Bird registration ends onMay31. After this, you may buy tickets from the vendors directly at full price and you may plan to go on your own. We will be planning our chaperones ahead of time, so we will not be able to provide chaperones if you purchase your tickets after May 31 at full price.

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