28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
19 citations
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October 1985 in “British Journal of Dermatology” The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
171 citations
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October 1990 in “Alcoholism/Alcoholism, clinical and experimental research” The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
15 citations
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April 2017 in “Cell Stem Cell” Some brain cancer cells avoid immune system detection, and certain treatments could target this to slow their growth; also, certain fat cell precursors help regenerate hair and skin after injury.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
688 citations
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June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
7 citations
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March 2019 in “Frontiers in Cellular and Infection Microbiology” Understanding how our bodies interact with mosquito-borne viruses is crucial because there are few treatments and vaccines.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
1 citations
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January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
Newer retinoid drugs are effective for skin conditions but have significant side effects.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
Antiepileptic drugs can cause cosmetic side effects and affect menstrual cycles, fertility, and bone health in women with epilepsy.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
356 citations
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September 2014 in “Journal of Clinical Research in Pediatric Endocrinology” Childhood obesity is rising globally due to various factors, and early prevention and healthy lifestyle changes are crucial.
223 citations
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October 2020 in “Microsystems & Nanoengineering” Microtechnology methods improve organoid production for medical research.