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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@article{751889, author = {Bzduch, V. and Behulova, D. and Kozák, Libor}, article_location = {Lancaster (United Kingdom)}, article_number = {2}, keywords = {Smith-Lemli-Opitz Smydrome; SLOS; sacral dimple}, language = {eng}, issn = {0141-8955}, journal = {JOURNAL OF Inherited Metabolic Disease}, title = {Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome}, volume = {30}, year = {2007} }
TY - JOUR ID - 751889 AU - Bzduch, V. - Behulova, D. - Kozák, Libor PY - 2007 TI - Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome JF - JOURNAL OF Inherited Metabolic Disease VL - 30 IS - 2 SP - 269-270 EP - 269-270 PB - SSIEM and Kluwer Academic Publisher SN - 01418955 KW - Smith-Lemli-Opitz Smydrome KW - SLOS KW - sacral dimple N2 - 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. ER -
BZDUCH, V., D. BEHULOVA and Libor KOZÁK. Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. \textit{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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