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Study highlights importance of genetic sequencing to diagnosis of growth disorders

Study highlights importance of genetic sequencing to diagnosis of growth disorders
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Raissa carneiro rezendePaulo medical schoolMedical schoolAlexander augusto de lima jorgeLima jorgeSyndromic growth disorders

Study finds significance of genetic sequencing to diagnose growth disorders | Health

The study highlights the need to use broad genetic tests such as whole exome or whole genome sequencing to identify the rare diseases. | Health

Sao pauloSuhani bhatnagarUniversity of sao paulo medical schoolAlso readMedical schoolAlexander augusto de lima jorgeLima jorgeGenetic sequencingGrowth disordersGenome sequencingGenetic testsGenetic alterationsT cell abnormalities

Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

Paulo medical schoolPaulo research foundationMedical schoolAugusto de lima jorgeLima jorgeBlood sugarExome sequencingMedical schoolT cellTooth enamelWhole genome sequencing

Genetic Sequencing Breakthroughs in Diagnosing Growth Disorders

Analyzing data from 115 children with syndromic conditions revealed a significant occurrence of overlapping genetic alterations.

Paulo medical schoolMedical schoolDiagnosing rare conditionsAlexander augusto de lima jorgeLima jorgeGrowth disordersGenome sequencingRare diseases

Science News | Study Gives Insight into Significance of Genetic Sequencing to Diagnosis of Growth Disorders

Get latest articles and stories on Science at LatestLY. Brazilian researchers described the case of a nine-year-old boy admitted to the hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, including short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy. Science News | Study Gives Insight into Significance of Genetic Sequencing to Diagnosis of Growth Disorders.

Sao pauloUniversity of sao paulo medical schoolMedical schoolAlexander augusto de lima jorgeLima jorge

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