22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
1 citations
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November 2023 in “Cureus” This study highlights a case of a 12-day-old female with Bloch-Sulzberger Syndrome, underscoring the need for early diagnosis based on skin symptoms to manage potential complications in other organs effectively.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.