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

Nature genetics, 2007-07, Vol.39 (7), p.833-835

2007

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

American journal of human genetics, 2009-04, Vol.84 (4), p.459-467

2009

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Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome

Pediatric dermatology, 2011-11, Vol.28 (6), p.670-673

2011

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Phacomatosis Pigmentokeratotica: A Follow‐up Report Documenting Additional Cutaneous and Extracutaneous Anomalies

Pediatric dermatology, 2008-01, Vol.25 (1), p.76-80

2008

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Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue

Journal of cutaneous pathology, 2007-02, Vol.34 (2), p.181-187

2007

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Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Journal of investigative dermatology, 2010-06, Vol.130 (6), p.1543-1550

2010

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Pronounced linear calcinosis in a boy with mild dermatomyositis. A further possible example of superimposed segmental manifestation of a polygenic disorder

Dermatology (Basel), 2009, Vol.219 (2), p.155

2009

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Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome

Journal of dermatological case reports, 2013-06, Vol.7 (2), p.49-51

2013

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Generalized eruptive histiocytosis-Juvenile xanthogranuloma: clinical spectrum in a pediatric patient

Archivos argentinos de pediatría, 2017-04, Vol.115 (2), p.e116-e119

2017

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Linear Porokeratosis Associated with Disseminated Superficial Actinic Porokeratosis: A New Example of Type II Segmental Involvement

Pediatric dermatology, 2003-11, Vol.20 (6), p.514-518

2003

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Geroderma Osteodysplastica. Report of a New Family

Pediatric dermatology, 2006-09, Vol.23 (5), p.467-472

2006

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Pronounced Linear Calcinosis in a Boy with Mild Dermatomyositis

Dermatology (Basel), 2009-08, Vol.219 (2), p.155-157

2009

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Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series

Journal of vascular anomalies (Philadelphia, Pa.), 2021-04, Vol.2 (2), p.e010

2021

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Juvenile hyaline fibromatosis: ultrastructural study

The American journal of dermatopathology, 1998-08, Vol.20 (4), p.373-378

1998

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Molecular characterization and natural history of linear porokeratosis: A case series

Journal of the American Academy of Dermatology, 2021-12, Vol.85 (6), p.1603-1606

2021

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Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

Pediatric dermatology, 2010-11, Vol.27 (6), p.664-666

2010

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Lack of effect of topical statins in linear porokeratosis

Journal of the European Academy of Dermatology and Venereology, 2021-01, Vol.35 (1), p.e26-e28

2021

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Histiocitosis eruptiva generalizada-xantogranuloma juvenil: espectro clínico en un paciente pediátrico

Archivos argentinos de pediatría, 2017-04, Vol.115 (2), p.e116-e119

2017

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Desmoplastic hairless hypopigmented nevus (DHHN). A distinct variant of giant melanocytic nevus

EJD. European journal of dermatology, 2005-11, Vol.15 (6), p.451-453

2005

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Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

Pediatric dermatology, 1999-03, Vol.16 (2), p.113-117

1999

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Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome

Pediatric Dermatology, 2011, Vol.28 (6), p.670-673

2011

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Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome

Journal of dermatological case reports, 2013, Vol.7 (2), p.49-51

2013

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

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

Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome

Phacomatosis Pigmentokeratotica: A Follow‐up Report Documenting Additional Cutaneous and Extracutaneous Anomalies

PORCN mutations in focal dermal hypoplasia: coping with lethality

Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

PORCN mutations in focal dermal hypoplasia: coping with lethality

Pronounced linear calcinosis in a boy with mild dermatomyositis. A further possible example of superimposed segmental manifestation of a polygenic disorder

Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome

Generalized eruptive histiocytosis-Juvenile xanthogranuloma: clinical spectrum in a pediatric patient

Linear Porokeratosis Associated with Disseminated Superficial Actinic Porokeratosis: A New Example of Type II Segmental Involvement

Geroderma Osteodysplastica. Report of a New Family

Pronounced Linear Calcinosis in a Boy with Mild Dermatomyositis

Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series

Juvenile hyaline fibromatosis: ultrastructural study

Molecular characterization and natural history of linear porokeratosis: A case series

Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

Lack of effect of topical statins in linear porokeratosis

Histiocitosis eruptiva generalizada-xantogranuloma juvenil: espectro clínico en un paciente pediátrico

Desmoplastic hairless hypopigmented nevus (DHHN). A distinct variant of giant melanocytic nevus

PORCN mutations in focal dermal hypoplasia: coping with lethality: PORCN Mutations in FDH

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome

Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome

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