A NEWBORN WITH OCULOCEREBROCUTANEOUS SYNDROME (DELLEMAN OORTHUYS SYNDROME) [0.03%]
奥克洛塞伯顿纳斯综合征(Oculo-cerebro-cutaneous syndrome)1例报告
M Saldir,A Polat,T Tunc et al.
M Saldir et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):457-61. DOI: 2015
A CASE WITH 18q DELETION SYNDROME IDENTIFIED WITH B CELL ABSENCE AND CONGENITAL HEART DISEASE [0.03%]
一项报告：B淋巴细胞缺失和先天性心脏病的18q-综合征病例
O Güvenç,D Çimen,M B Kaplan et al.
O Güvenç et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):451-5. DOI: 2015
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS [0.03%]
肌张力低下和智能障碍的患者应检查大角膜：E Neuhauser综合征——一个容易被忽略的诊断
T Atik,S Sahin Atik,O Çoğulu et al.
T Atik et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):443-5. DOI: 2015
D Cogulu,F Hazan,F Cagirir Dindaroglu
D Cogulu
Williams Syndrome is a microdeletion syndrome characterized by a number of developmental and physical abnormalities. The aim of the present study was to evaluate the oral abnormalities and dental management of patients with Williams Syndrom...
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION [0.03%]
由于9号染色体微缺失导致的Kleefstra综合征双胞胎
T Atik,E Karaca,E Ozkinay et al.
T Atik et al.
Kleefstra or 9q subtelomeric deletion syndrome (9qSTDS) is a rare microdeletion syndrome. The most prominent phenotypic features include hypotonia, developmental retardation, as well as typical dysmorphic face. It has been shown that termin...
REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT [0.03%]
维生素B12缺陷型钴胺素C的迟发型临床和磁共振成像表现具有可逆性
E Gurkas,A Kartal,K Aydin et al.
E Gurkas et al.
Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset. We describe an 8 year old girl with late-onset Cbl C disease presenting with neurop...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):425-30. DOI: 2015
S Tasdemir,I Sahin,D J Morris-Rosendahl et al.
S Tasdemir et al.
Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, in...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):415-23. DOI: 2015
CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE [0.03%]
由新型SLC25A13基因突变引起的Citrin缺乏症1例及相关文献复习
A C Aktuglu Zeybek,E Kiykim,T Zubarioglu et al.
A C Aktuglu Zeybek et al.
We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased α-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin de...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):409-13. DOI: 2015
H Saat,Y Soysal,S Kurtgoz et al.
H Saat et al.
Chromosomal deletions and/or duplications are relatively common cytogenetic abnormalities. Clinical findings depend on pure or complex forms of the anomaly, the location and size. In those cases, using current analytical technologies increa...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(4):401-7. DOI: 2015