Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
about
Germline mosaicism in X-linked periventricular nodular heterotopiaDiverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging.Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging.Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Fetal phenotypes in otopalatodigital spectrum disorders.Novel no-stop FLNA mutation causes multi-organ involvement in malesFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Atypical male and female prese ...... ntricular nodular heterotopia.
@en
Atypical male and female prese ...... ntricular nodular heterotopia.
@nl
type
label
Atypical male and female prese ...... ntricular nodular heterotopia.
@en
Atypical male and female prese ...... ntricular nodular heterotopia.
@nl
prefLabel
Atypical male and female prese ...... ntricular nodular heterotopia.
@en
Atypical male and female prese ...... ntricular nodular heterotopia.
@nl
P2093
P1476
Atypical male and female prese ...... ntricular nodular heterotopia.
@en
P2093
Albert David
Anne Dieux-Coeslier
Benoit Arveiler
Cyril Goizet
Cécile Marchal
Elise Maurat
Guilhem Solé
Isabelle Coupry
Jean-Benoit Thambo
Julie Deforges
P304
P356
10.1016/J.EJMG.2012.01.018
P577
2012-02-08T00:00:00Z