BZDUCH, V., D. BEHULOVA and Libor KOZÁK. Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. JOURNAL OF Inherited Metabolic Disease. Lancaster (United Kingdom): SSIEM and Kluwer Academic Publisher, 2007, vol. 30, No 2, p. 269-270. ISSN 0141-8955.
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Basic information
Original name Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome
Name in Czech Sakrální důlek jako kožní projev Smith-Lemli-Opitzova syndromu
Authors BZDUCH, V., D. BEHULOVA and Libor KOZÁK.
Edition JOURNAL OF Inherited Metabolic Disease, Lancaster (United Kingdom), SSIEM and Kluwer Academic Publisher, 2007, 0141-8955.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher Netherlands
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.668
Organization unit Faculty of Science
UT WoS 000245470900027
Keywords in English Smith-Lemli-Opitz Smydrome; SLOS; sacral dimple
Tags sacral dimple, SLOS, Smith-Lemli-Opitz Smydrome
Tags Reviewed
Changed by Changed by: doc. RNDr. Lenka Fajkusová, CSc., učo 29792. Changed: 28/1/2008 15:23.
Abstract
Smith-Lemli-Opitz syndrome (SLOS) has extremly variable phenotype, ranging from life-threatening congenital malformations to minor anomalies, but sacral dimple has not been includet in the phenotypic spectrum. Besides typical findings of SLOS, our newborn girl had unusual scin manifestation of sacral dimple.
Abstract (in Czech)
Objevení nového diagnostického znaku (sacral dimple) u nově narozené pacientky se SLOS.
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