| BZDUCH, V., D. BEHULOVA a 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, roč. 30, č. 2, s. 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 a 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, roč.~30, č.~2, s.~269-270. ISSN~0141-8955.
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