Neonatal Marfan syndrome with angle-closure glaucoma, tricuspid and mitral insufficiency [0.03%]
马凡综合征并发闭角型青光眼及三尖瓣、二尖瓣关闭不全的新生儿病例
Y Kale,D U Isik,U Celik et al.
Y Kale et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):95-8. DOI: 2015
Mutational analysis of the galactose-1-phosphate uridyltransferase (GALT) gene in southeast part of Turkey: a regional report [0.03%]
土耳其东南部乳糖不耐症基因分析地区报告
M Akar,M Celik,C S Kasapkara et al.
M Akar et al.
A case with rare type of congenital disorder of glycosylation: PGM1-CDG [0.03%]
一个罕见的糖基化障碍遗传病病例：PGM1-CDG
A Küçükçongar,L Tümer,F Süheyl Ezgü et al.
A Küçükçongar et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):87-90. DOI: 2015
N Guzoglu,A Tandircioglu,D Aliefendioglu
N Guzoglu
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):85-6. DOI: 2015
M S İpek,C Akgul
M S İpek
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):81-3. DOI: 2015
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18 [0.03%]
脐膨出、无脑儿和并指（趾）症与18三体综合征并发病例报告
A Karaman,H Aydin,K Göksu
A Karaman
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):77-9. DOI: 2015
22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2) [0.03%]
由于母源性平衡易位t（18;22）（p11.2;q11.2）导致的22q11.2综合征
B G Nur,Z Cetin,O A Clark et al.
B G Nur et al.
22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is m...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):67-75. DOI: 2015
Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin [0.03%]
双绒毛膜胎盘囊中一例具有蝶状头颅的典型第一型先天性骨发育不全症病例报告
V M Salinas-Torres
V M Salinas-Torres
Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexican) dichorionic female twin. The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):61-5. DOI: 2015
A Karaman,H Aydin,B Geçkinli et al.
A Karaman et al.
The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysm...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):53-60. DOI: 2015
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings [0.03%]
RPS6KA3 C.898C>T突变导致的科芬-洛里综合征家系报告及相关异常脑影像学表现分析
T Tos,M Y Alp,A Aksoy et al.
T Tos et al.
Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive skeletal malformations. It is caused by mutations in the RPS6K...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(1):47-52. DOI: 2015