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Brooke Megan Greenberg (January 8, 1993 – October 24, 2013) [1] [2] was an American woman who became famous for being the first documented case of neotenic complex syndrome. Throughout her life of 20 years, she remained physically and cognitively similar to a toddler despite her increasing age.
Prior to 2015, when whole genome sequencing was used to identify some genes involved in NCS, the condition was labelled "Syndrome X" when it was first discovered in Brooke Greenberg. Thereafter, others with the developmental symptoms were sought out in order to find common genetic aberrations that could provide clues as to cause.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
All individuals who are found to carry the inactivated familial CYLD gene mutation should receive genetic counselling which may include: information on limitations in the ability to predict the severity of CCS between individuals, families, and generations; family planning; prenatal testing; preimplantation genetic diagnosis; and the need for ...
The plaintiffs in this case were a group of parents of children who had Canavan disease and three non-profit organizations who developed a confidential Canavan disease registry and database. [1] The parents provided their children's tissue for research on the disease and the non-profit groups aided in the identification of other affected ...
Alzheimer's disease; Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons; Bipolar disorder; Breast cancer; Brooke Greenberg Disease (Syndrome X) Carnitine palmitoyltransferase II deficiency; Charcot–Marie–Tooth disease, types 1 and 2; collagenopathy, types II and XI; congenital hypothyroidism; Ehlers-Danlos syndrome
Back in 2018, Gigi Hadid told Allure that when people commented she was "too big for the industry" in her early years of modeling, she was really struggling with undiagnosed Hashimoto's Disease.
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