research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
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research Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system
Paternal drug exposure can harm fertility, pregnancy outcomes, and offspring health, with specific drugs linked to various reproductive issues.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Paint brush hair: a case report
Shaving and avoiding brushing improved the patient's beard hair condition.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Hypo- versus hyper-thyroidism in 2 cats: the culprit for miliary dermatitis/hypersensitivity versus growth retardation
One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
research Application of mesenchymal stem cells in paediatrics
Mesenchymal stem cells are effective and safe for treating various diseases in children.