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- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
- Sexual function in women with androgen excess disorders: classic forms of congenital adrenal hyperplasia and polycystic ovary syndrome
- A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
- Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
- Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
- Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
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