Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Alina T. Midro; Niels Tommerup; Jan Borys; Barbara Panasiuk; Bożena Kosztyła-Hojna; Renata Zalewska; Jerzy Konstantynowicz; Urszula Łebkowska; Lance Cooper; Steven E. Scherer; Manna M. Mehrjouy; Qian Liu; Rafał Skowroński; Paweł Stankiewicz

doi:10.1111/cge.13490

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Alina T. Midro^*, Niels Tommerup, Jan Borys, Barbara Panasiuk, Bożena Kosztyła-Hojna, Renata Zalewska, Jerzy Konstantynowicz, Urszula Łebkowska, Lance Cooper, Steven E. Scherer, Manna M. Mehrjouy, Qian Liu, Rafał Skowroński, Paweł Stankiewicz

^*Corresponding author af dette arbejde

Medical Genetics Program

2 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	95
Udgave nummer	4
Sider (fra-til)	534-536
Antal sider	3
ISSN	0009-9163
DOI	https://doi.org/10.1111/cge.13490
Status	Udgivet - apr. 2019

Adgang til dokumentet

10.1111/cge.13490

Citationsformater

Midro, A. T., Tommerup, N., Borys, J., Panasiuk, B., Kosztyła-Hojna, B., Zalewska, R., Konstantynowicz, J., Łebkowska, U., Cooper, L., Scherer, S. E., Mehrjouy, M. M., Liu, Q., Skowroński, R., & Stankiewicz, P. (2019). Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clinical Genetics, 95(4), 534-536. https://doi.org/10.1111/cge.13490

Midro, AT, Tommerup, N, Borys, J, Panasiuk, B, Kosztyła-Hojna, B, Zalewska, R, Konstantynowicz, J, Łebkowska, U, Cooper, L, Scherer, SE, Mehrjouy, MM, Liu, Q, Skowroński, R & Stankiewicz, P 2019, 'Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome', Clinical Genetics, bind 95, nr. 4, s. 534-536. https://doi.org/10.1111/cge.13490

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title = "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome",

author = "Midro, {Alina T.} and Niels Tommerup and Jan Borys and Barbara Panasiuk and Bo{\.z}ena Koszty{\l}a-Hojna and Renata Zalewska and Jerzy Konstantynowicz and Urszula {\L}ebkowska and Lance Cooper and Scherer, {Steven E.} and Mehrjouy, {Manna M.} and Qian Liu and Rafa{\l} Skowro{\'n}ski and Pawe{\l} Stankiewicz",

year = "2019",

month = apr,

doi = "10.1111/cge.13490",

language = "English",

volume = "95",

pages = "534--536",

journal = "Clinical Genetics",

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T1 - Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

AU - Midro, Alina T.

AU - Tommerup, Niels

AU - Borys, Jan

AU - Panasiuk, Barbara

AU - Kosztyła-Hojna, Bożena

AU - Zalewska, Renata

AU - Konstantynowicz, Jerzy

AU - Łebkowska, Urszula

AU - Cooper, Lance

AU - Scherer, Steven E.

AU - Mehrjouy, Manna M.

AU - Liu, Qian

AU - Skowroński, Rafał

AU - Stankiewicz, Paweł

PY - 2019/4

Y1 - 2019/4

U2 - 10.1111/cge.13490

DO - 10.1111/cge.13490

M3 - Letter

C2 - 30633344

AN - SCOPUS:85059890240

SN - 0009-9163

VL - 95

SP - 534

EP - 536

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -