RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. [PDF]
Clin Case Rep, 2023 Abstract We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.
Washington C +4 more
europepmc +2 more sources
Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. [PDF]
British Journal of Ophthalmology, 1987 Spallone A.
exaly +2 more sources
Bloch-Sulzberger Syndrome (incontinentia pigmenti). [PDF]
Journal of Medical Genetics, 1966 A E Emery
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Ocular Changes in the Bloch-Sulzberger Syndrome (Incontinentia Pigmenti) [PDF]
British Journal of Ophthalmology, 1955 J G Scott
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The continuing digital transformation of the New York Times by Arthur Sulzberger [PDF]
, 2011 The chairman of the New York Times Arthur Sulzberger gave a talk at Polis LSE on the continuing digital transformation of the New York Times on November ...
Sulzberger, Arthur
core +5 more sources
Linear patterns of the skin and their dermatoses
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 18, Issue 4, Page 341-364, April 2020., 2020 Summary Knowledge about the linear patterns of the skin is a key competence of dermatologists. Four major groups of linear patterns can be distinguished: Langer lines, dermatomes, Blaschko lines and exogenous patterns. Langer lines run in the direction of the underlying collagen fibers (least skin tension) and play an important diagnostic role for some
Sonja Senner +3 more
wiley +1 more source
Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection [PDF]
Neonatal Medicine, 2020 Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder that is generally lethal to males and almost always leads to death in utero.
Sang Ho Park, Kyung-Hwa Nam, Yo Han Ho
doaj +1 more source
Die Linienmuster der Haut und ihre Dermatosen
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 18, Issue 4, Page 341-365, April 2020., 2020 Zusammenfassung Die Kenntnis der Linienmuster der Haut stellt eine Schlüsselkompetenz für jeden Dermatologen dar. Vier Hauptgruppen von Linienmustern sind relevant: Langer‐Linien, Dermatome, Blaschko‐Linien und exogene Muster. Die Langer‐Linien markieren die Richtung der geringsten Spannung der Haut und sind diagnostisch wichtig für einige ...
Sonja Senner +3 more
wiley +1 more source
Você conhece esta síndrome? Do you know this syndrome?
Anais Brasileiros de Dermatologia, 2011 A Síndrome de Bloch-Sulzberger (Incontinência Pigmentar) é uma genodermatose rara, que afeta, principalmente, o sexo feminino, pois costuma ser letal em pacientes do sexo masculino intraútero.
Isabella Brasil Succi +2 more
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