Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.
about
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome)Goltz syndrome and PORCN mosaicism.Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.Ocular coloboma: a reassessment in the age of molecular neuroscience.Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.Genetic control of X inactivation and processes leading to X-inactivation skewing.Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities.Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.Goltz syndrome: a rare case of father-to-daughter transmission.Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.
P2860
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P2860
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
Father-to-daughter transmissio ...... ternal X chromosome mosaicism.
@en
type
label
Father-to-daughter transmissio ...... ternal X chromosome mosaicism.
@en
prefLabel
Father-to-daughter transmissio ...... ternal X chromosome mosaicism.
@en
P356
P1476
Father-to-daughter transmissio ...... ternal X chromosome mosaicism.
@en
P2093
P304
P356
10.1002/AJMG.1320400317
P577
1991-09-01T00:00:00Z