Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

V.A. van Rahden, I. Rau, S. Fuchs, F.K. Kosyna, H.L. de Almeida, H. Fryssira, B. Isidor, A. Jauch, M. Joubert, A.M.A. Lachmeijer, C. Zweier, U. Moog, K. Kutsche

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Article number53
JournalOrphanet Journal of Rare Diseases
Volume9
DOIs
Publication statusPublished - 2014

Cite this

van Rahden, V.A. ; Rau, I. ; Fuchs, S. ; Kosyna, F.K. ; de Almeida, H.L. ; Fryssira, H. ; Isidor, B. ; Jauch, A. ; Joubert, M. ; Lachmeijer, A.M.A. ; Zweier, C. ; Moog, U. ; Kutsche, K. / Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. In: Orphanet Journal of Rare Diseases. 2014 ; Vol. 9.
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title = "Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome",
author = "{van Rahden}, V.A. and I. Rau and S. Fuchs and F.K. Kosyna and {de Almeida}, H.L. and H. Fryssira and B. Isidor and A. Jauch and M. Joubert and A.M.A. Lachmeijer and C. Zweier and U. Moog and K. Kutsche",
year = "2014",
doi = "10.1186/1750-1172-9-53",
language = "Undefined/Unknown",
volume = "9",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
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van Rahden, VA, Rau, I, Fuchs, S, Kosyna, FK, de Almeida, HL, Fryssira, H, Isidor, B, Jauch, A, Joubert, M, Lachmeijer, AMA, Zweier, C, Moog, U & Kutsche, K 2014, 'Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome' Orphanet Journal of Rare Diseases, vol. 9, 53. https://doi.org/10.1186/1750-1172-9-53

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. / van Rahden, V.A.; Rau, I.; Fuchs, S.; Kosyna, F.K.; de Almeida, H.L.; Fryssira, H.; Isidor, B.; Jauch, A.; Joubert, M.; Lachmeijer, A.M.A.; Zweier, C.; Moog, U.; Kutsche, K.

In: Orphanet Journal of Rare Diseases, Vol. 9, 53, 2014.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

AU - van Rahden, V.A.

AU - Rau, I.

AU - Fuchs, S.

AU - Kosyna, F.K.

AU - de Almeida, H.L.

AU - Fryssira, H.

AU - Isidor, B.

AU - Jauch, A.

AU - Joubert, M.

AU - Lachmeijer, A.M.A.

AU - Zweier, C.

AU - Moog, U.

AU - Kutsche, K.

PY - 2014

Y1 - 2014

U2 - 10.1186/1750-1172-9-53

DO - 10.1186/1750-1172-9-53

M3 - Article

VL - 9

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 53

ER -