Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
about
SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delaminationGRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersZebrafish models of orofacial clefts.Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Etiologies of uterine malformations.
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Q27304464-FA55838E-D932-405E-ABEA-8117560FB60AQ28119074-0A317B75-1C24-45A0-9818-63D36DEA18C0Q38631050-65A948CF-D125-461C-80C1-F9BBCA7F2C61Q47194658-B58B129F-DF9F-4496-AB4F-1906C2F567D7Q52785713-D620CC57-A569-4CF8-A3B3-2C28B33B508BQ53064226-92A93F1D-DAB8-4D79-9EBD-CF7B6714A93EQ53087377-1290AD4F-F188-48CA-8EFE-D0A6EEB0E931
P2860
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
description
im November 2015 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
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наукова стаття, опублікована в листопаді 2015
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name
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@en
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@nl
type
label
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@en
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@nl
prefLabel
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@en
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@nl
P2093
P2860
P356
P1476
Expanding the SPECC1L mutation ...... e Teebi hypertelorism syndrome
@en
P2093
Cecilia Kim
Elaine H Zackai
Elizabeth J Bhoj
Haijun Qiu
Hakon Hakonarson
Jodi D Hoffman
Lifeng Tian
Margaret H Harr
Tiancheng Wang
P2860
P304
P356
10.1002/AJMG.A.37217
P407
P577
2015-11-01T00:00:00Z