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A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Standard

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. / Girisha, Katta M; Abdollahpour, Hengameh; Shah, Hitesh; Bhavani, Gandham Srilakshmi; Graham, John M; Boggula, Vijay Raju; Phadke, Shubha R; Kutsche, Kerstin.

in: AM J MED GENET A, Jahrgang 164A, Nr. 4, 01.04.2014, S. 1035-40.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Girisha, KM, Abdollahpour, H, Shah, H, Bhavani, GS, Graham, JM, Boggula, VR, Phadke, SR & Kutsche, K 2014, 'A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis', AM J MED GENET A, Jg. 164A, Nr. 4, S. 1035-40. https://doi.org/10.1002/ajmg.a.36381

APA

Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R., & Kutsche, K. (2014). A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. AM J MED GENET A, 164A(4), 1035-40. https://doi.org/10.1002/ajmg.a.36381

Vancouver

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM, Boggula VR et al. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. AM J MED GENET A. 2014 Apr 1;164A(4):1035-40. https://doi.org/10.1002/ajmg.a.36381

Bibtex

@article{064bb1ed7d014c25b70b5a72cfbaf153,
title = "A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis",
abstract = "We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, and unilateral clubfoot at birth. The combination of these features represents a novel phenotype. We sequenced the protein-coding regions of the FLNA and FLNB genes and did not observe any pathogenic sequence variation. Chromosomal microarray revealed a de novo copy number variation of uncertain clinical significance on 7p22.3.",
author = "Girisha, {Katta M} and Hengameh Abdollahpour and Hitesh Shah and Bhavani, {Gandham Srilakshmi} and Graham, {John M} and Boggula, {Vijay Raju} and Phadke, {Shubha R} and Kerstin Kutsche",
note = "{\textcopyright} 2014 Wiley Periodicals, Inc.",
year = "2014",
month = apr,
day = "1",
doi = "10.1002/ajmg.a.36381",
language = "English",
volume = "164A",
pages = "1035--40",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

AU - Girisha, Katta M

AU - Abdollahpour, Hengameh

AU - Shah, Hitesh

AU - Bhavani, Gandham Srilakshmi

AU - Graham, John M

AU - Boggula, Vijay Raju

AU - Phadke, Shubha R

AU - Kutsche, Kerstin

N1 - © 2014 Wiley Periodicals, Inc.

PY - 2014/4/1

Y1 - 2014/4/1

N2 - We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, and unilateral clubfoot at birth. The combination of these features represents a novel phenotype. We sequenced the protein-coding regions of the FLNA and FLNB genes and did not observe any pathogenic sequence variation. Chromosomal microarray revealed a de novo copy number variation of uncertain clinical significance on 7p22.3.

AB - We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, and unilateral clubfoot at birth. The combination of these features represents a novel phenotype. We sequenced the protein-coding regions of the FLNA and FLNB genes and did not observe any pathogenic sequence variation. Chromosomal microarray revealed a de novo copy number variation of uncertain clinical significance on 7p22.3.

U2 - 10.1002/ajmg.a.36381

DO - 10.1002/ajmg.a.36381

M3 - SCORING: Journal article

C2 - 24458843

VL - 164A

SP - 1035

EP - 1040

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 4

ER -