María del Carmen Boente

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 282 citations

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Karl‐Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner et al. · Nature Genetics · 2007 · 280 citations

Developmental Biology, Signal Transduction, Tissue Development +9

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle et al. · The American Journal of Human Genetics · 2009 · 148 citations · Full text

Inflammation, Protein Quality Control, Oxysterol +14

Blue Rubber Bleb Nevus (Bean Syndrome): Evolution of Four Cases and Clinical Response to Pharmacologic Agents

María del Carmen Boente, Maria Cordisco, Maria del V. Frontini et al. · Pediatric Dermatology · 1999 · 79 citations · Full text

Bean Syndrome, Pathology, Gastrointestinal Vascular Malformations +8

<i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König et al. · Human Mutation · 2009 · 74 citations · Full text

Developmental Biology, Somatic Variant, Mendelian Disorder +14