X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Item
http://www.wikidata.org/entity/Q40156896
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Gene networks associated with non-syndromic intellectual disability.19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle.
P2860

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Item
http://www.wikidata.org/entity/Q40156896
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
X-linked congenital ptosis and ...... Xq25q26 duplication syndrome.
@en
type
label
X-linked congenital ptosis and ...... Xq25q26 duplication syndrome.
@en
prefLabel
X-linked congenital ptosis and ...... Xq25q26 duplication syndrome.
@en
P1433
P1476
P2093
P2860
P2888
P304
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P478
P50
P577
P6179
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P1433
P1476
X-linked congenital ptosis and ...... l Xq25q26 duplication syndrome
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P921