Adams–Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants

<b>Background and Clinical Significance</b><b>:</b> Adams–Oliver syndrome type 3 (AOS3) is a rare congenital disorder typically characterised by terminal transverse limb defects and variable involvement of other organ systems. Although pathogenic variants in RBPJ are well established in AOS3, associ...

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Үндсэн зохиолчид:	Grațian Cosmin Damian, Valerica Belengeanu, Cristina Popescu, Diana Marian, Ramona Amina Popovici, Carolina Cojocariu
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	MDPI AG 2026-01-01
Цуврал:	Diagnostics
Нөхцлүүд:	Adams-Oliver syndrome (RBPJ) transverse terminal limb defects CACNA1A MTHFR homocysteine neuropsychiatric manifestations
Онлайн хандалт:	https://www.mdpi.com/2075-4418/16/2/274
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!